Alu Elements
The Alu sequence family (named for the restriction endonuclease cleavage enzyme Alu I) is the most highly repeated interspersed repeat element in humans (over a million copies). It is derived from the 7SL RNA component of the SIGNAL RECOGNITION PARTICLE and contains an RNA polymerase III promoter. Transposition of this element into coding and regulatory regions of genes is responsible for many heritable diseases.
Repetitive Sequences, Nucleic Acid
Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).
Long Interspersed Nucleotide Elements
Highly repeated sequences, 6K-8K base pairs in length, which contain RNA polymerase II promoters. They also have an open reading frame that is related to the reverse transcriptase of retroviruses but they do not contain LTRs (long terminal repeats). Copies of the LINE 1 (L1) family form about 15% of the human genome. The jockey elements of Drosophila are LINEs.
Short Interspersed Nucleotide Elements
Highly repeated sequences, 100-300 bases long, which contain RNA polymerase III promoters. The primate Alu (ALU ELEMENTS) and the rodent B1 SINEs are derived from 7SL RNA, the RNA component of the signal recognition particle. Most other SINEs are derived from tRNAs including the MIRs (mammalian-wide interspersed repeats).
DNA Transposable Elements
Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.
Genome, Human
Base Sequence
Molecular Sequence Data
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Retroelements
Elements that are transcribed into RNA, reverse-transcribed into DNA and then inserted into a new site in the genome. Long terminal repeats (LTRs) similar to those from retroviruses are contained in retrotransposons and retrovirus-like elements. Retroposons, such as LONG INTERSPERSED NUCLEOTIDE ELEMENTS and SHORT INTERSPERSED NUCLEOTIDE ELEMENTS do not contain LTRs.
Strepsirhini
Sequence Homology, Nucleic Acid
Exons
3' Flanking Region
Hominidae
Response Elements
Cercopithecidae
Introns
RNA Editing
A process that changes the nucleotide sequence of mRNA from that of the DNA template encoding it. Some major classes of RNA editing are as follows: 1, the conversion of cytosine to uracil in mRNA; 2, the addition of variable number of guanines at pre-determined sites; and 3, the addition and deletion of uracils, templated by guide-RNAs (RNA, GUIDE).
Promoter Regions, Genetic
Pan troglodytes
Enhancer Elements, Genetic
Evolution, Molecular
Transcription, Genetic
DNA
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
RNA Polymerase III
A DNA-dependent RNA polymerase present in bacterial, plant, and animal cells. It functions in the nucleoplasmic structure where it transcribes DNA into RNA. It has specific requirements for cations and salt and has shown an intermediate sensitivity to alpha-amanitin in comparison to RNA polymerase I and II. EC 2.7.7.6.
Mutagenesis, Insertional
Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt GENETIC TRANSLATION of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation.
Genes, Neurofibromatosis 1
Gorilla gorilla
Regulatory Sequences, Nucleic Acid
Gene Conversion
The asymmetrical segregation of genes during replication which leads to the production of non-reciprocal recombinant strands and the apparent conversion of one allele into another. Thus, e.g., the meiotic products of an Aa individual may be AAAa or aaaA instead of AAaa, i.e., the A allele has been converted into the a allele or vice versa.
Inosine
A purine nucleoside that has hypoxanthine linked by the N9 nitrogen to the C1 carbon of ribose. It is an intermediate in the degradation of purines and purine nucleosides to uric acid and in pathways of purine salvage. It also occurs in the anticodon of certain transfer RNA molecules. (Dorland, 28th ed)
Sequence Alignment
The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.
Gene Expression Regulation
Polymerase Chain Reaction
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Sequence Analysis, DNA
Chromosome Breakage
Consensus Sequence
A theoretical representative nucleotide or amino acid sequence in which each nucleotide or amino acid is the one which occurs most frequently at that site in the different sequences which occur in nature. The phrase also refers to an actual sequence which approximates the theoretical consensus. A known CONSERVED SEQUENCE set is represented by a consensus sequence. Commonly observed supersecondary protein structures (AMINO ACID MOTIFS) are often formed by conserved sequences.
CpG Islands
Areas of increased density of the dinucleotide sequence cytosine--phosphate diester--guanine. They form stretches of DNA several hundred to several thousand base pairs long. In humans there are about 45,000 CpG islands, mostly found at the 5' ends of genes. They are unmethylated except for those on the inactive X chromosome and some associated with imprinted genes.
HeLa Cells
Cloning, Molecular
Terminal Repeat Sequences
Nucleotide sequences repeated on both the 5' and 3' ends of a sequence under consideration. For example, the hallmarks of a transposon are that it is flanked by inverted repeats on each end and the inverted repeats are flanked by direct repeats. The Delta element of Ty retrotransposons and LTRs (long terminal repeats) are examples of this concept.
RNA, Messenger
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
Restriction Mapping
Chromosome Mapping
Binding Sites
Gene Rearrangement
Computational Biology
A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories for solving biological problems including manipulation of models and datasets.
Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene. (1/466)
Two families with autosomal dominantly inherited desmoid tumors have recently been shown to have germline mutations at the 3' end of the APC gene. We subsequently identified an Amish family with autosomal dominantly inherited desmoid tumors. Genetic analysis performed on one family member, a 47-year-old man with multiple desmoid tumors and no colon polyps, revealed a protein truncating mutation in the middle of the APC gene. The truncating mutation is the result of a 337-bp insertion of an Alu I sequence into codon 1526 of the APC gene. The presence of a poly(A) tail at the 3' end of the insertion suggests that the Alu I sequence was inserted by a retrotranspositional event. Germline insertions of Alu I sequences have occasionally been reported to cause other genetic diseases including type I neurofibromatosis, hereditary site-specific breast cancer (BRCA2), and hemophilia B. However, this is the first report of a germline mutation of the APC gene resulting from an Alu I insertion. (+info)A novel human DNA-binding protein with sequence similarity to a subfamily of redox proteins which is able to repress RNA-polymerase-III-driven transcription of the Alu-family retroposons in vitro. (2/466)
In this study we identified a novel protein which may contribute to the transcriptional inactivity of Alu retroposons in vivo. A human cDNA clone encoding this protein (ACR1) was isolated from a human expression library using South-western screening with an Alu subfragment, implicated in the regulation of Alu in vitro transcription and interacting with a HeLa nuclear protein down-regulated in adenovirus-infected cells. Bacterially expressed ACR1 is demonstrated to inhibit RNA polymerase III (Pol III)-dependent Alu transcription in vitro but showed no repression of transcription of a tRNA gene or of a reporter gene under control of a Pol II promoter. ACR1 mRNA is also found to be down-regulated in adenovirus-infected HeLa cells, consistent with a possible repressor function of the protein in vivo. ACR1 is mainly (but not exclusively) located in cytoplasm and appears to be a member of a weakly characterized redox protein family having a central, highly conserved sequence motif, PGAFTPXCXXXXLP. One member of the family identified earlier as peroxisomal membrane protein (PMP)20 is known to interact in a sequence-specific manner with a yeast homolog of mammalian cyclosporin-A-binding protein cyclophilin, and mammalian cyclophilin A (an abundant ubiquitously expressed protein) is known to interact with human transcriptional repressor YY1, which is a major sequence-specific Alu-binding protein in human cells. It appears, therefore, that transcriptional silencing of Alu in vivo is a result of complex interactions of many proteins which bind to its Pol III promoter. (+info)Translational control of specific genes during differentiation of HL-60 cells. (3/466)
Eukaryotic gene expression can be regulated through selective translation of specific mRNA species. Nevertheless, the limited number of known examples hampers the identification of common mechanisms that regulate translation of specific groups of genes in mammalian cells. We developed a method to identify translationally regulated genes. This method was used to examine the regulation of protein synthesis in HL-60 cells undergoing monocytic differentiation. A partial screening of cellular mRNAs identified five mRNAs whose translation was specifically inhibited and five others that were activated as was indicated by their mobilization onto polysomes. The specifically inhibited mRNAs encoded ribosomal proteins, identified as members of the 5'-terminal oligopyrimidine tract mRNA family. Most of the activated transcripts represented uncharacterized genes. The most actively mobilized transcript (termed TA-40) was an untranslated 1.3-kilobase polyadenylated RNA with unusual structural features, including two Alu-like elements. Following differentiation, a significant change in the cytoplasmic distribution of Alu-containing mRNAs was observed, namely, the enhancement of Alu-containing mRNAs in the polysomes. Our findings support the notion that protein synthesis is regulated during differentiation of HL-60 cells by both global and gene-specific mechanisms and that Alu-like sequences within cytoplasmic mRNAs are involved in such specific regulation. (+info)Human-specific insertion/deletion polymorphisms in Indian populations and their possible evolutionary implications. (4/466)
DNA samples from 396 unrelated individuals belonging to 14 ethnic populations of India, inhabiting various geographical locations and occupying various positions in the socio-cultural hierarchy, were analysed in respect of 8 human-specific polymorphic insertion/deletion loci. All loci, except Alu CD4, were found to be highly polymorphic in all populations. The levels of average heterozygosities were found to be very high in all populations and, in most populations, also higher than those predicted by the island model of population structure. The coefficient of gene differentiation among Indian populations was found to be higher than populations in most other global regions, except Africa. These results are discussed in the light of two possible scenarios of evolution of Indian populations in the broader context of human evolution. (+info)Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami. (5/466)
Y chromosomal polymorphisms were studied in 502 males from 16 Eurasian ethnic groups including the Finns, Saami (Inari Lake area and Skolt Saami), Karelians, Mari, Mokshas, Erzas, Hungarians (Budapest area and Csangos), Khanty, Mansi, Yakuts, Koryaks, Nivkhs, Mongolians, and Latvians. The samples were analysed for polymorphisms in the Y chromosome specific Alu insertion (YAP) and six microsatellites (DYS19, DYS389-I and II, DYS390, DYS392, DYS393). The populations were also screened for the recently described Tat polymorphism. The incidence of YAP+ type was highest in the Csangos and in other Hungarians (37.5% and 17.5%, respectively). In the Karelians and the Latvians it was present at approximately the same level as commonly found in other European populations, whilst absent in our further samples of Eurasian populations, including the Finns and the Saami. Aside from the Hungarians, the C allele of the Tat polymorphism was common in all the Finno-Ugric speaking populations (from 8.2% to 63.2%), with highest incidence in the Ob-Ugrian Khanty. The C allele was also found in the Latvians (29.4%). The haplotypes found associated with the Tat C allele showed consistently lower density than those associated with the T allele, indicating that the T allele is the original form. The computation of the age of the Tat C suggested that the mutation might be a relatively recent event giving a maximum likelihood estimate of 4440 years (95% confidence interval about 3140-6200 years). The distribution patterns of the 222 haplotypes found varied considerably among the populations. In the Finns a majority of the haplotypes could be assigned to two distinct groups, one of which harboured the C allele of the Tat polymorphism, indicating dichotomous primary source of genetic variation among Finnish males. The presence of a bottleneck or founding effect in the male lineages of some of the populations, namely in the Finns and the Saami, would appear to be one likely interpretation for these findings. (+info)Molecular analysis of an unstable genomic region at chromosome band 11q23 reveals a disruption of the gene encoding the alpha2 subunit of platelet-activating factor acetylhydrolase (Pafah1a2) in human lymphoma. (6/466)
A region of 150 kb has been analysed around a previously isolated, lymphoma associated, translocation breakpoint located at chromosome band 11q23. This balanced and reciprocal translocation, t(11;14)(q32;q23), has been shown to result in the fusion between chromosome 11 specific sequence and the switch gamma4 region of the IGH locus. The LPC gene, encoding a novel proprotein convertase belonging to the furin family, has been identified in this region. In order to characterize further the region surrounding the translocation, we have determined the detailed structure of LPC. Here we show that LPC consists of at least 16 exons covering 25 kb, and that there is a partial duplication, involving mobile genetic elements and containing LPC exons 13-17 in a tail-tail configuration at 65 kb downstream. Since the chromosomal breakpoint lay between these two structures, the intervening region was further analysed and shown to contain at least two unrelated genes. The previously known SM22 gene was localized close to the 3' tail of LPC. Furthermore, we identified the gene encoding the alpha2 subunit of platelet-activating factor acetylhydrolase (Pafah1a2) at the chromosomal breakpoint. The position of another previously identified breakpoint was also located to within the first intron of this gene. Altogether, our results give evidence of a genomic instability of this area of 11q23 and show that Pafah1a2 and not LPC is the gene disrupted by the translocation, suggesting that deregulated Pafah1a2 may have a role in lymphomagenesis. (+info)Concerted evolution of the tandem array encoding primate U2 snRNA (the RNU2 locus) is accompanied by dramatic remodeling of the junctions with flanking chromosomal sequences. (7/466)
The genes encoding primate U2 snRNA are organized as a nearly perfect tandem array (the RNU2 locus) that has been evolving concertedly for >35 Myr since the divergence of baboons and humans. Thus the repeat units of the tandem array are essentially identical within each species, but differ between species. Homogeneity is maintained because any change in one repeat unit is purged from the array or fixed in all other repeats. Intriguingly, the cytological location of RNU2 has remained unchanged despite concerted evolution of the tandem array. We had found previously that junction sequences between the U2 tandem array and flanking DNA were subject to remodeling over a region of 200-300 bp during the past 5 Myr in the hominid lineage. Here we show that the junctions between the U2 tandem array and flanking DNA have undergone dramatic rearrangements over a region of 1 to >10 kbp in the 35 Myr since divergence of the Old World Monkey and hominid lineages. We argue that these rearrangements reflect the high level of genetic activity required to sustain concerted evolution, and propose a model to explain why maintenance of homogeneity within a tandemly repeated multigene family would lead to junctional diversity. (+info)Expressed sequence tag (EST) phenotyping of HT-29 cells: cloning of ser/thr protein kinase EMK1, kinesin KIF3B, and of transcripts that include Alu repeated elements. (8/466)
To study the mechanisms that control epithelial commitment and differentiation we have used undifferentiated HT-29 colon cancer cells and a subpopulation of mucus secreting cells obtained by selection of HT-29 cells in 10-6 M methotrexate (M6 cells) as experimental models. We isolated cDNAs encoding transcripts overexpressed in early confluent M6 cells regarding steady-state levels in HT-29 cells by subtractive hybridisation. Fifty-one cDNA clones, corresponding to 34 independent transcripts, were isolated, partially sequenced by their 5' end, and classified into four groups according to their identity: transcripts that included a repeated sequence of the Alu family (10 clones, among them those encoding ribonucleoprotein RNP-L and E-cadherin), transcripts encoded by the mitochondrial genome (nine clones), transcripts encoding components of the protein synthesis machinery (23 clones, including the human ribosomal protein L38 not previously cloned in humans) and nine additional cDNAs that could not be classified in the previous groups. These last included ferritin, cytokeratin 18, translationally controlled human tumour protein (TCHTP), mt-aldehyde dehydrogenase, as well as unknown transcripts (three clones), and the human homologues of the molecular motor kinesin KIF3B and of the ser/thr protein kinase EMK1. Spot dot and Northern blot analyses showed that ser/thr protein kinase EMK1 was differentially expressed in M6 cells when compared with parental HT-29 cells. Steady-state levels of EMK1 were higher in proliferating, preconfluent, M6 and HT-29 cells than in 2 days post confluence (dpc) and 8dpc M6 and HT-29 cells. Transcripts that included an Alu repeat were also shown to be differentially expressed and accumulated in differentiating M6 cells when analysed by Northern blot. The significance of the transcripts cloned is discussed in the context of the commitment and differentiation of the M6 cells to the mucus secreting lineage of epithelial cells. (+info)
The contribution of Alu exons to the human proteome | Genome Biology | Full Text
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MIEN1 is tightly regulated by SINE Alu methylation in its promoter<...
The human growth hormone gene contains a silencer embedded within an Alu repeat in the 3′-flanking region<...
Since the discovery of the high abundance of Alu elements in
Biased exonization of transposed elements in duplicated genes: A lesson from the TIF-IA gene | BMC Molecular Biology | Full Text
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Retrotransposon marker
October 2003). "Alu elements and hominid phylogenetics". Proc. Natl. Acad. Sci. U.S.A. 100 (22): 12787-91. doi:10.1073/pnas. ... The analysis of SINEs - Short INterspersed Elements - LINEs - Long INterspersed Elements - or truncated LTRs - Long Terminal ... The target sites are relatively unspecific so that the chance of an independent integration of exactly the same element into ... Kriegs JO, Churakov G, Kiefmann M, Jordan U, Brosius J, Schmitz J (April 2006). "Retroposed elements as archives for the ...
ARMH3
325 L V T T P V S P A P T T P V T P L G T T P P S S 359 An Alu element was identified in the 3`-UTR of the longest mRNA ... Häsler J, Strub K (2006). "Alu elements as regulators of gene expression". Nucleic Acids Research. 34 (19): 5491-7. doi:10.1093 ... Also, an Alu segment in the 3 prime untranslated region of the mature mRNA could serve as a potential translational regulatory ... but there is existing evidence for Alu-mediated protein translation regulation, so this cannot be ruled out in c10orf76. The N- ...
Mutation
Häsler J, Strub K (November 2006). "Alu elements as regulators of gene expression". Nucleic Acids Research. 34 (19): 5491-7. ... They are usually caused by transposable elements, or errors during replication of repeating elements. Insertions in the coding ... For example, more than a million copies of the Alu sequence are present in the human genome, and these sequences have now been ... Insertions can be reversed by excision of the transposable element. Deletions remove one or more nucleotides from the DNA. Like ...
Pseudogene
Jurka J (December 2004). "Evolutionary impact of human Alu repetitive elements". Current Opinion in Genetics & Development. 14 ... This sort of competition for regulatory elements by RNAs that are endogenous to the genome has given rise to the term ceRNA. ... Pseudogene sequences may be transcribed into RNA at low levels, due to promoter elements inherited from the ancestral gene or ... For example, somewhere between 30-44% of the human genome consists of repetitive elements such as SINEs and LINEs (see ...
Jerzy Jurka
... including the discovery of the major families of Alu elements. He also proposed the mechanism of Alu proliferation and ... June 2002). "Active Alu elements are passed primarily through paternal germlines". Theoretical Population Biology. 61 (4): 519- ... The Erdős Project, "Paths to Erdős" Jurka J, Smith T (July 1988). "A fundamental division in the Alu family of repeated ... In 2006 they reported a study of a new, self-synthesizing transposable element called Polinton or Maverick, which is present ...
Retrotransposon
SVA elements are present at lower levels than SINES and LINEs in humans. The starts of SVA and Alu elements are similar, ... SVA elements are the exception between the two as they share similarities with both LINEs and SINEs, containing Alu elements ... Copy and pasting Alu RNA requires the Alu's adenine-rich end and the rest of the sequence bound to a signal. The signal-bound ... The insertion rates for LINE1, Alu and SVA elements are 1/200 - 1/20, 1/20 and 1/900 respectively. The LINE1 insertion rates ...
HSD17B1
Localization of multiple Alu sequences and putative cis-acting elements". European Journal of Biochemistry / FEBS. 209 (1): 459 ...
Exon shuffling
"Cellular inhibitors of long interspersed element 1 and Alu retrotransposition". Proceedings of the National Academy of Sciences ... LINEs are a group of genetic elements that are found in abundant quantities in eukaryotic genomes. LINE-1 is the most common ... It is composed of the read-through Helitron element and its downstream genomic regions, flanked by a random DNA site, serving ... But since the L1 element was present in neither the retrotransposed segment nor the original sequence the mobilization of the ...
A. Thomas Look
"Alu elements mediate MYB gene tandem duplication in human T-ALL". Journal of Experimental Medicine. 204 (13): 3059-3066. doi: ... "An oncogenic super-enhancer formed through somatic mutation of a noncoding intergenic element". Science. 346 (6215): 1373-1377 ...
Andrea Alù
"Optical Circuits and Circuit Elements and Methods of Forming Same". Nader Engheta et al US Patent Provisional Application No. ... CS1 maint: discouraged parameter (link) "Andrea Alu' (author and co-author)". Google Scholar. March 24, 2012. Retrieved 2012-07 ... optical circuit elements, and a cloaked sensor device. From January 2009 to January 2018 Alù was an assistant professor in the ...
Genome
The Alu element is the most common SINE found in primates. It is about 350 base pairs and occupies about 11% of the human ... and Penelope-like elements (PLEs). In Dictyostelium discoideum, there is another DIRS-like elements belong to Non-LTRs. Non- ... The interspersed nuclear elements (SINEs), and endogenous retroviruses. These elements have a big potential to modify the ... Transposable elements (TEs) are sequences of DNA with a defined structure that are able to change their location in the genome ...
BC200 lncRNA
The 5' region of the RNA defines one domain and consists of Alu repeat elements. The other two structural domains are a central ... "BRAIN CYTOPLASMIC RNA 1; BCYRN1." "Alu elements: know the SINEs" "The Long Non-Coding RNA BC200 (BCYRN1) Is Critical for Cancer ... The 5' region (left arm) of monomeric Alu short interspersed repetitive elements (SINEs) allows for BC200 RNA transposition and ... a Neural RNA Polymerase III Product Encoded by a Monomeric Alu Element". Proceedings of the National Academy of Sciences of the ...
Non-coding DNA
Alu sequences, classified as a short interspersed nuclear element, are the most abundant mobile elements in the human genome. ... Cis-regulatory elements are sequences that control the transcription of a nearby gene. Many such elements are involved in the ... Cis-elements may be located in 5' or 3' untranslated regions or within introns. Trans-regulatory elements control the ... A genetic insulator is a boundary element that plays two distinct roles in gene expression, either as an enhancer-blocking code ...
Evolution of biological complexity
Daniel, Chammiran; Behm, Mikaela; Öhman, Marie (2015). "The role of Alu elements in the cis-regulation of RNA processing". ...
CpG site
Alu elements are known as the most abundant type of transposable elements. Some studies have used Alu elements as a way to ... Alu elements are CPG-rich in a longer amount of sequence, unlike LINEs and ERVs. Alus can work as a methylation center, and the ... Distal promoter elements also frequently contain CpG islands. An example is the DNA repair gene ERCC1, where the CpG island- ... However, this is a result that is analyzed over time because older Alus elements show more CPG loss in sites of neighboring DNA ...
Genome survey sequence
There are about 300 to 500 thousand copies of Alu repetitive element in human genome, which means one Alu element exists in 4 ... Alu element can be used for genome fingerprinting based on PCR, which is also called Alu PCR. There are several ways to analyze ... Alu repetitive element is member of Short Interspersed Elements (SINE) in mammalian genome. ... that is why it is called Alu repetitive element. By using special Alu sequence as target locus, specific human DNA can be ...
Signal recognition particle RNA
In eukaryotes and archaea, eight helical elements fold into the Alu and S domains, separated by a long linker region. The Alu ... The UGU(NR) motif connects helices 3 and 4 in the small (Alu) SRP domain. Fungal SRP RNAs lacking helices 3 and 4 contain the ... It is now understood that Alu DNA originated from SRP RNA by excision of the central SRP RNA-specific (S) fragment, followed by ... SRP9 and SRP14 are structurally related and form the SRP9/14 heterodimer which binds to the SRP RNA of the small (Alu) domain. ...
Microprocessor
The ALU performs addition, subtraction, and operations such as AND or OR. Each operation of the ALU sets one or more flags in a ... A single operation code might affect many individual data paths, registers, and other elements of the processor. As integrated ... The Four-Phase Systems AL1 was an 8-bit bit slice chip containing eight registers and an ALU. It was designed by Lee Boysel in ... A minimal hypothetical microprocessor might include only an arithmetic logic unit (ALU), and a control logic section. ...
Proopiomelanocortin
Kuehnen P, Mischke M, Wiegand S, Sers C, Horsthemke B, Lau S, Keil T, Lee YA, Grueters A, Krude H (2012). "An Alu element- ... It allows that T3 bind to the thyroid hormone receptor (TR), which then bind to thyroid hormone response elements (TREs) in the ...
Gene polymorphism
For example, repetitive elements of the Alu and LINE1 families cause polymorphisms in human genome. Microsatellites are repeats ... Polymorphic repetitive elements. Active transposable elements can also cause polymorphism by inserting themselves in new ...
Transposable element
The most common transposable element in humans is the Alu sequence. It is approximately 300 bases long and can be found between ... Activator element (Ac) is an example of an autonomous TE, and dissociation elements (Ds) is an example of a non-autonomous TE. ... Transposable elements represent one of several types of mobile genetic elements. TEs are assigned to one of two classes ... A transposable element (TE or transposon) is a DNA sequence that can change its position within a genome, sometimes creating or ...
Labor federation competition in the United States
The ALU called sympathy strikes to defend the activists. In spite of the failure of AFL-affiliated craft unions to support the ... Yet the labor movement had demonstrated that it could not muster solidarity among its disparate elements, and the Citizens' ... As the WFM was systematically repressed and ALU locals came under pressure from the Citizens' Alliance, the AFL saw more ... The Western Labor Union became the American Labor Union (ALU) and announced its intention to organize nationwide, hoping to ...
MHC class III
Many retroelements such as human endogenous retrovirus (HERV) and Alu elements are located in the cluster. The region ...
CGGBP1
The protein binds to CGG trinucleotide repeats to regulate transcription (including inhibiting Alu elements) and translation. ... Chen LS, Tassone F, Sahota P, Hagerman PJ (2004). "The (CGG)n repeat element within the 5' untranslated region of the FMR1 ...
Aluminium
No elements with odd atomic numbers have more than two stable isotopes; even-numbered elements have multiple stable isotopes, ... The Latin word alumen stems from the Proto-Indo-European root *alu- meaning "bitter" or "beer". British chemist Humphry Davy, ... For instance, see the November-December 2013 issue of Chemistry International: in a table of (some) elements, the element is ... with tin (element 50) having the highest number of stable isotopes of all elements, ten. The single exception is beryllium ...
PCK2
Potential regulatory elements, including five GC boxes and three CCAAT boxes, lie 1819 bp upstream of the transcription start ... Another difference is the presence of Alu sequences in its introns that are absent in PCK1. PCK2 also contains an 18-residue ...
Lipoprotein lipase
"A novel complex deletion-insertion mutation mediated by Alu repetitive elements leads to lipoprotein lipase deficiency". Mol. ...
Japanese Americans
The chromosome addition of Y Alu polymorphic element is only displayed in Japanese American men. People of Japanese descent ...
Evolution of biological complexity
Daniel, Chammiran; Behm, Mikaela; Öhman, Marie (2015). "The role of Alu elements in the cis-regulation of RNA processing". ...
Khat
It is sour to taste and slenderly made in the manner of batan-alu. But khat is reddish with a slight blackish tinge. It is ... it also suggested that public discourse on the issue displayed elements of a moral panic.[86] Some Somali community ... believed that batan-alu is red, coolant, relieves biliousness, and is a refrigerant for the stomach and the liver. ...
Mosaic (genetics)
Somatic mosaics are common in embryogenesis due to retrotransposition of L1 and Alu transposable elements.[11] In early ... Other endogenous factors can also lead to mosaicism including mobile elements, DNA polymerase slippage, and unbalanced ... development, DNA from undifferentiated cell types may be more susceptible to mobile element invasion due to long, un-methylated ...
Lenghe dravìdiche an piemontèis, l'enciclopedìa lìbera e a gràtis
lenga Kurumba, Alu. * lenga Kurumba, Jennu. * lenghe Tamil-Malayalam. * lenghe Malayalam. * lenga Aranadan ...
Negative-index metamaterial
Alu, A.; Engheta, N. (2004). "Guided Modes in a Waveguide Filled with a Pair of Single-Negative (SNG), Double-Negative (DNG), ... The metamaterial was constructed as a periodic array of copper split ring and wire conducting elements deposited onto a circuit ... The array scatters electromagnetic radiation at wavelengths longer than the size of the element and lattice spacing. The array ... In the above sections first fabricated metamaterial was constructed with resonating elements, which exhibited one direction of ...
망막색소상피세포 - 위키백과, 우리 모두의 백과사전
최근에는 Alu RNA[36], [37]라는 인간 유전체에 존재하는 전이성 유전인자(transposable element)[38]가 inflammasome[39]를 활성화시켜서, 최종적으로 세포사멸에 관여하는 카스페이즈8( ... Hasler J, Strub K, (2006). "Alu elements as regulators of gene expression". Nucleic Acids Research 34 (19): 5491-5497 ... Kim, Y; Tarallo, Y; Kerur, N; Yasuma, T; Gelfand, BD; Bastos-Carvalho, A; Hirano, Y; Yasuma, R (2014). "DICER1/Alu RNA ...
Computer data storage
New Method Of Self-assembling Nanoscale Elements Could Transform Data Storage Industry Archived 1 March 2009 at the Wayback ... ALU). The former controls the flow of data between the CPU and memory, while the latter performs arithmetic and logical ...
Ukrainians
"Ukrainian Music Elements". Canadian Institute of Ukrainian Studies. 2001.. *^ "Ukrainian Wandering Bards: Kobzars, Bandurysts, ... Alexander Varzari, "Population History of the Dniester-Carpathians: Evidence from Alu Insertion and Y-Chromosome Polymorphisms ... It also has a very strong indigenous Slavic and Christian uniqueness whose elements were used among many neighboring nations.[ ... is one of the most distinctive elements of Ukraine's cultural heritage.. ...
Insurgency in the North Caucasus
In late 1999, Russia's Premier, Vladimir Putin, ordered military, police and security forces to enter the breakaway region of Chechnya. By early 2000, these forces occupied most of the region. High levels of fighting continued for several more years and resulted in thousands of Russian and Chechen casualties and hundreds of thousands of displaced persons. In 2005, Chechen rebel leader, Abdul-Halim Sadulayev, decreed the formation of a Caucasus Front against Russia, among Islamic believers in the North Caucasus, in an attempt to widen Chechnya's conflict with Russia. After his death, his successor, Dokka Umarov, declared continuing jihad to establish an Islamic fundamentalist Caucasus Emirate in the North Caucasus and beyond. Russia's pacification policy in Chechnya has involved setting up a pro-Moscow regional government and transferring more local security duties to this government. An important factor in Russia's apparent success in Chechnya has been reliance on pro-Moscow Chechen clans ...
Amplicon
PCR can be used to determine sex from a human DNA sample.[15] The loci of Alu element insertion is selected, amplified and ... "Mobile element-based assay for human gender determination". Analytical Biochemistry. 312 (1): 77-9. doi:10.1016/S0003-2697(02) ...
CPU cache
Level-2 caches sometimes save power by reading the tags first, so that only one data element is read from the data SRAM. ... Arithmetic logic unit (ALU). *Address generation unit (AGU). *Floating-point unit (FPU) ...
Microsatellite
Turnpenny P, Ellard S (2005). Emery's Elements of Medical Genetics (12th ed.). London: Elsevier.. CS1 maint: Uses authors ... Almost 50% of the human genome is contained in various types of transposable elements (also called transposons, or 'jumping ...
Long non-coding RNA
Alu elements in humans and analogous B1 and B2 elements in mice have succeeded in becoming the most abundant mobile elements ... The abundance and distribution of Alu elements and similar repetitive elements throughout the mammalian genome may be partly ... In addition to heat shock, the expression of SINE elements (including Alu, B1, and B2 RNAs) increases during cellular stress ... The Alu RNA contains two 'arms', each of which may bind one RNAP II molecule, as well as two regulatory domains that are ...
Transposable element
Insertion of Alu element into the PBGD gene leads to interference with the coding region and leads to acute intermittent ... Activator element (Ac) is an example of an autonomous TE, and dissociation elements (Ds) is an example of a non-autonomous TE. ... Mustajoki S, Ahola H, Mustajoki P, Kauppinen R (June 1999). "Insertion of Alu element responsible for acute intermittent ... Transposable elements represent one of several types of mobile genetic elements. TEs are assigned to one of two classes ...
Xenoma, a enciclopedia libre
Kidwell MG, Lisch DR (2000 Mar). "Transposable elements and host genome evolution". Trends in ecology & evolution 15 (3): 95-99 ... Os elementos Alu son os SINEs máis comúns nos primates, e teñen unha loxitude de 350 pares de bases e supoñen o 11% do xenoma ... Kazazian, H. H. (12 March 2004). "Mobile Elements: Drivers of Genome Evolution". Science 303 (5664): 1626-1632. Bibcode:2004Sci ... Penelope-like elements--a new class of retroelements: distribution, function and possible evolutionary significance. Cytogenet ...
Sex hormone-binding globulin
... n repeat element within an Alu sequence". The Journal of Biological Chemistry. 276 (39): 36383-90. doi:10.1074/jbc.M104681200. ... A calcium ion is needed to link the two elements of the dimer together. Also a zinc ion is used to orient an otherwise ... binding to a DR1 like cis element which then stimulate production. Competing with HNF4A at a third site on the promoter is ...
Майкл Стюарт Браун - Уикипедия
35] Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial ... 36] 42 bp element from LDL receptor gene confers end-product repression by sterols when inserted into viral TK promoter. Cell. ... 25] Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains. Science. 1985 ... 24] The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA. Cell. 1984 Nov;39(1):27-38 ...
Nalik language
As such the Nalik counting system contains elements of a base five counting system however when proceeding past ten, the ... counting system uses elements of base ten.[2] The word for the number five kavitmit can be analyzed as the phrase ka vit mit. ...
İlham Şahmuradov - Vikipediya
Kapitonov VV, Kolchanov NA, Shahmuradov IA (1993) Evolutionary dynamics of the number of Alu repeats in Human genome. - In: " ... Shakhmuradov IA, Kolchanov NA, Solovyev VV, Ratner VA (1986) Enhancer-like structures in middle repetitive DNA elements of ... Shakhmuradov IA, Kapitonov VV, Kolchanov NA, Omelyanchuk LV (1989). Evolution of Alu repeats: Dynamics of propagation in genome ... Kapitonov VV, Kolchanov NA, Shahmuradov IA (1993) Phylogenetic analysis of Alu repeats. In: "Computer analysis of genetic ...
Mutation
"Alu elements as regulators of gene expression". Nucleic Acids Research. 34 (19): 5491-7. doi:10.1093/nar/gkl706. PMC 1636486. ... They are usually caused by transposable elements, or errors during replication of repeating elements. Insertions in the coding ... Hurst GD, Werren JH (August 2001). "The role of selfish genetic elements in eukaryotic evolution". Nature Reviews Genetics. 2 ( ... Insertions can be reversed by excision of the transposable element.. *Deletions remove one or more nucleotides from the DNA. ...
Aluminium
Mercury (element) Thallium Lead Bismuth Polonium Astatine Radon Francium Radium Actinium Thorium Protactinium Uranium Neptunium ... Pokorny, Julius (1959). "alu- (-d-, -t-)". Indogermanisches etymologisches Wörterbuch [Indo-European etymological dictionary] ( ... No elements with odd atomic numbers have more than two stable isotopes; even-numbered elements have multiple stable isotopes, ... For instance, see the November-December 2013 issue of Chemistry International: in a table of (some) elements, the element is ...
ADN non codificante, a enciclopedia libre
As secuencias Alu, clasificadas como SINEs, son os elementos móbiles máis abondosos no xenoma humano. Algúns SINEs exercen un ... "Defining functional DNA elements in the human genome". PNAS 111 (17): 6131-6138. Bibcode:2014PNAS..111.6131K. PMC 4035993 ... Häsler J, Samuelsson T, Strub K; Samuelsson; Strub (July 2007). "Useful 'junk': Alu RNAs in the human transcriptome". Cell. Mol ... "InvAluable junk: the cellular impact and function of Alu and B2 RNAs". IUBMB Life 61 (8): 831-7. PMC 4049031. PMID 19621349 ...
SRY
Ellis NA, Goodfellow PJ, Pym B, et al. (1989). „The pseudoautosomal boundary in man is defined by an Alu repeat sequence ...
Koopiaarvu variatsioonid - Vikipeedia
See esineb kahe või enama koopiana haploidses genoomis, järjestus on samane vähemalt 90% ulatuses.[8] Alu elemendid on ... epigenoomis või keskkonnas leidub kompensatoorne element.[8] Patoloogilise tagajärjega CNV-d on suurema tõenäosusega suured ( ... Tihti on CNV-d seotud identsete järjestusosadega - segmentaalsed duplikatsioonid, madala sagedusega kordused, Alu või LINE ...
Yam (vegetable)
In central parts of India, the yam (khamalu, suran, or chupri alu) is prepared by being finely sliced, seasoned with spices, ... Yam is an important dietary element for Nigerian and West African people. It contributes more than 200 calories per person per ... "Element Stewardship Abstract for Dioscorea bulbifera, Air potato". Nature Conservancy.. *^ a b Linus Opara (2003). "YAMS: Post ...
Cthulhu Mythos deities
He is said to be of the air element opposed to Cthulhu's water element. ... The Wolf-Thing, The Stalker in the Snows, He Who Hunts, Na-girt-a-lu A ferocious and towering wolf-like humanoid with bat wings ...
Alu element - Wikipedia
Alu elements in primates form a fossil record that is relatively easy to decipher because Alu element insertion events have a ... The Alu family is a family of repetitive elements in primate genomes, including the human genome. Modern Alu elements are about ... Alu elements are retrotransposons and look like DNA copies made from RNA polymerase III-encoded RNAs. Alu elements do not ... Alu) restriction endonuclease. Alu elements are the most abundant transposable elements, containing over one million copies ...
Elements 10kmah ALU Powerbank - Silver
- IWOOT UK
Few SINEs of life: Alu elements have little evidence for biological relevance despite elevated translation
Transposable elements colonize genomes and with time may end up being incorporated into functional regions. SINE Alu elements, ... among these Alu-derived exons. Overall, our results confirm that SINE Alu elements have contributed to the expansion of the ... Few SINEs of life: Alu elements have little evidence for biological relevance despite elevated translation. Author(s). Martinez ... All but one of the Alu elements for which we detected peptides were frame-preserving and there was proportionally seven times ...
Alu Elements | Profiles RNS
"Alu Elements" by people in this website by year, and whether "Alu Elements" was a major or minor topic of these publications. ... "Alu Elements" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical Subject ... The domain structure and distribution of Alu elements in long noncoding RNAs and mRNAs. RNA. 2016 Feb; 22(2):254-64. ... The Alu sequence family (named for the restriction endonuclease cleavage enzyme Alu I) is the most highly repeated interspersed ...
The Contribution of Alu Elements to Mutagenic DNA Double-Strand Break Repair | proLékaře.cz
Generation of stable Alu/Alu recombination cell lines. To develop stable Alu/Alu recombination cell lines, all Alu/Alu ... unlike with the MLL Alu elements, we did not observe any Alu/Alu recombination events between the Alu elements in Sz15%-Ya5- ... between the Alu elements in the Alu/Alu recombination reporter cassette.. The effect of Alu element sequence divergence on DNA ... Two genomic Alu elements (Alu Sz and Sx) that have been shown to cause disease through Alu/Alu recombination within the MLL ...
Evolution of Alu elements in long non-coding RNA and mRNA
Alu elements in primates are preferentially lost from areas of high GC content [PeerJ]
An analysis of 103906 Alu elements across 6 human chromosomes was carried out, using the presence of orthologous Alu elements ... Alu elements are found in low GC regions and old Alus in high GC regions. The correlation between high GC regions and high ... The link between Alu subfamily age and GC region was made due to an over-simplification of the data and is incorrect. We ... These observations have been made by relying on the subfamily as a proxy for age of an element. In this study, we suggest that ...
Model for dual relationship between Alu elements and mi | Open-i
Model for dual relationship between Alu elements and miRNAs in the C19MC cluster.During the phase of rapid extension of Alu ... which in turn can target sense Alu sequences and thus alter the fate of free Alu elements. This is of great interest as Alu is ... which in turn can target sense Alu sequences and thus alter the fate of free Alu elements. This is of great interest as Alu is ... it can be proposed that Alu expansion and growth of this cluster has occurred in parallel. Because many of the Alu elements ...
Alu Elements | Profiles RNS
"Alu Elements" by people in this website by year, and whether "Alu Elements" was a major or minor topic of these publications. ... Insertion of an Alu Element in Thyroglobulin Gene as a Novel Cause of Congenital Hypothyroidism. Thyroid. 2020 05; 30(5):780- ... "Alu Elements" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical Subject ... The Alu sequence family (named for the restriction endonuclease cleavage enzyme Alu I) is the most highly repeated interspersed ...
Alu elements shape the primate transcriptome by cis-regulation of RNA editing | Genome Biology | Full Text
Inverted Alu elements and site-selective editing in ZFP14. (a) Top: UCSC genome browser view. Inverted Alu elements are ... Inverted Alu elements are annotated with their family and strandedness in the repetitive elements by RepeatMasker track, and ... We propose a model whereby primate-specific editing is induced by adjacent Alu elements that function as recruitment elements ... Our results indicate that inverted Alu repeat elements can act as editing inducers. These elements are often located hundreds ...
Alu-mediated inactivation of the human CMP- N-acetylneuraminic acid hydroxylase gene | PNAS
22). The Alu elements shown in Fig. 1 are represented by Hs sahAluY, Pt sahAluSq, Gg sahAluSq, and Mm sahAluSq. msAluY ... sahAluSq,. sialic acid hydroxylase AluSq;. sahAluY,. sialic acid hydroxylase AluY;. msAluY,. most similar AluY;. E-A region,. ... This finding supports the notion that Alu-related events, such as Alu insertion, Alu-Alu recombination, Alu conversion, and Alu ... there are six other Alu elements in addition to sahAluY(data not shown): one AluJb, two AluSxs, two AluSqs, and one free left ...
Natural Genetic Variation Caused by Transposable Elements in Humans | Genetics
Polymorphic ancient Alu elements:. In addition to Alu Y elements, we also identified four polymorphic copies of older Alu S ... only the Alu Y elements were thought to be polymorphic in humans, whereas the older Alu S, Alu J, and Alu monomers were thought ... Alu Y elements, in contrast, are the youngest Alu elements in the genome and these elements remain actively mobile today (B ... As outlined above, Alu Ya5 and Alu Yb8 insertions were the most abundant Alu elements in our data sets. Carroll et al. (2001) ...
Gene transcriptions/Boxes/GCs - Wikiversity
"The Alu family is a family of repetitive elements in the human genome. Modern Alu elements are about 300 base pairs long and ... "Alu elements in primates form a fossil record that is relatively easy to decipher because Alu elements insertion events have a ... Alu elements are retrotransposons and look like DNA copies made from RNA polymerase III-encoded RNAs. Alu elements do not ... The study of Alu elements thus reveals details of ancestry because individuals will only share a particular Alu element ...
nature.com search
Exercise 5: Detection of a Human Alu Element by PCR - PDF
Detection of a Human Alu Element by PCR (adapted from Dolan DNA Learning Center, Cold Spring Harbor Laboratory, NY and Science ... Alu elements are classified as SINEs, or Short INterspersed Elements. All Alu elements are approximately 300-bp in length and ... Human chromosomes contain about 1,000,000 Alu copies, which equal 10% of the total genome. An estimated different Alu elements ... containing the 300-bp Alu element) will not migrate as far from the well as the smaller TPA product (missing the 300-bp Alu ...
An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group
Because the GCNT2 locus is rich in Short INterspersed Elements (SINE repeats) and thus likely prone to genomic rearrangements, ... An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group Hum Genet. 2012 Feb;131(2 ... The deletion is flanked by Alu repeats of the AluS family on both sides and microsatellite genotyping suggested that its ... occurrence in the two families was the product of recurrent Alu-Alu repeat-mediated nonhomologous recombinations or an old ...
Conformational polymorphysm of G-rich fragments of DNA Alu-repeats. I. Noncanonical structures | SpringerLink
Alu retrotransposons are primate-specific short interspersed elements. Using the... ... We report results of the first systematic study of conformational polymorphism of G-rich DNA fragments of Alu-repeats. ... Alu-Y). A recombinant DNA sequence bearing the Alu element of the human bcl2 gene (304 bp) and its PQS-mutant (Alu-PQS) were ... Alu retrotransposons are primate-specific short interspersed elements. Using the Alu sequence of the prooncogen bcl2 intron and ...
CiteSeerX - Citation Query TranspoGene and microTranspoGene: transposed elements influence on the transcriptome of seven...
... transposed elements influence on the transcriptome of seven vertebrates and invertebrates ... A typical Alu element contains ...". Abstract - Cited by 13 (4 self) - Add to MetaCart Exonization of Alu elements creates ... Alu elements. Two initial data sets of exonizing and nonexonizing intronic Alu elements (exonic and intronic data sets) in the ... Background: Alu elements are the most abundant retrotransposable elements comprising ~11 % of the human genome. Many studies ...
nature.com search
A tissue-specific decrease in the pre-mRNA level of L1- and alu-containing alleles of human genes]
They include the evolutionarily youngest element groups Ta-L1, AluYa5, and AluYb8, many inserts of which are polymorphous in ... Despite the data on the ability of L1 and Alu eleme … ... LINE1 and Alu retroelements occupy approximately 17 and 13% of ... Despite the data on the ability of L1 and Alu elements to cause various modifications of the genome, the effects of these ... heterozygous with respect to intronic inserts of L1 and Alu elements. We showed for the first time a tissue-specific decrease ...
Alu Insertion Polymorphisms for the Study of Human Genomic Diversity | Genetics
We analyzed Alu elements retrieved from the GenBank database and identified two new Alu subfamilies, Alu Yb9 and Alu Yc2, and ... GenBank database searches for Alu Y elements that perfectly match the consensus sequence brought several Alu Y elements to our ... like the Alu element that generated the majority (,90%) of the Alu elements currently present in the genome today. For those ... We were able to analyze 28 out of the 56 Yb9 elements, 97 out of 176 Yc1 elements, and 8 out of 17 Yc2 Alu elements, using this ...
A SINE in the genome of the cephalochordate amphioxus is an Alu element | Holland, Linda
A SINE in the genome of the cephalochordate amphioxus is an Alu element. International Journal of Biological Sciences. 2.(2):61 ... A SINE in the genome of the cephalochordate amphioxus is an Alu element. ... Conserved noncoding elements in the most distant genera of cephalochordates: The Goldilocks principle ...
Genomic Disorders | SpringerLink
TFIIIC Binding to Alu Elements Controls Gene Expression via Chromatin Looping and Histone Acetylation - Human Technopole
TFIIIC Binding to Alu Elements Controls Gene Expression via Chromatin Looping and Histone Acetylation. ... TFIIIC Binding to Alu Elements Controls Gene Expression via Chromatin Looping and Histone Acetylation. Authors:. *Ferrari R., ... TFIIIC Binding to Alu Elements Controls Gene Expression via Chromatin Looping and Histone Acetylation ... Here, we report regulatory mechanisms unveiling a central role of Alu elements (AEs) and RNA polymerase III transcription ...
Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements. - Radcliffe Department of...
... newly positioned telomere acquired by recombination between this 16p Alu element and a closely related subtelomeric Alu element ... remote regulatory element controlling alpha-globin expression. The chromosomal breakpoint lies in an Alu family repeat located ... newly positioned telomere acquired by recombination between this 16p Alu element and a closely related subtelomeric Alu element ... Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements. ...
Publications | Michael Brudno
Passive Conservation of Noncoding Elements in 200 KB of Orthologous Human, Mouse and Dog DNA. Edward M Rubin, Chris Meyers, ... Detecting Alu insertions from high-throughput sequencing data. Matei David, Harun Mustafa, Michael Brudno ... Assembly and characterization of novel Alu inserts detected from next-generation sequencing data. Harun Mustafa, Matei David, ... Computational analysis of candidate intron regulatory elements for tissue-specific alternative pre-mRNA splicing. Michael ...
Since the discovery of the high abundance of Alu elements in
... promoter of Alu elements is not sufficient to drive transcription and very few Alu elements of the genome are able to ... The total number of copies of B1 B2 B4 and ID elements in mouse (1.4 millions) surpasses that of human Alu elements [7]. Both ... Nevertheless rodent genomes possess other SINEs named B1 elements which are Alu-like elements with a monomeric structure and a ... Apart from these Pol III-transcribed free Alu RNAs Alu elements integrated inside genes. ...
Search Results | PORT
In the present article, I discuss how intronic mutations acting at Alu elements enable formation of new exons. I review the ... the mechanism that represses such a major inclusion of Alu exons and instead enables a gradual evolution of Alu elements into ... the mechanism that represses such a major inclusion of Alu exons and instead enables a gradual evolution of Alu elements into ... The advance of high-throughput sequencing enabled rapid progress in mapping the functional elements in our genome. ...
Distributions of Transposable Elements Reveal Hazardous Zones in Mammalian Introns
Author Summary Sequences derived from transposable elements (TEs) are major constituents of mammalian genomes and are found ... Alu elements Is the Subject Area "Alu elements" applicable to this article? Yes. No. ... Transposable elements Is the Subject Area "Transposable elements" applicable to this article? Yes. No. ...
Organization, Evolutionary Conservation, Expression
and Unusual Alu Density of the Human Gene for Pigment
Epithelium-Derived...
... flanking region is dominated by a dense cluster of Alu repeats consisting of 8 complete and 3 partial Alu elements. A partial ... Englander, E. and Howard, B.H. (1995) Nucleosome positioning by human Alu elements in chromatin. J. Biol. Chem. 270, 10091- ... Certainly, the most striking and unique feature of the first 5 kb of 5-flanking region is the dense cluster of Alu elements ... As with the more classical elements discussed above, it will be interesting to determine if any of the elements embedded in the ...
Provided the definitiRepeatsGenomeSequencesPrimatesGenesShort INterspersed ElementsRNAsGenomesInsertionsSequenceRecombinationRetrotransposonsExonsRepetitive elementsRetrotransposonSINEsCopiesMRNAsIntronAntisenseHumansEncodeTranspositionStudy of Alu elementsSubfamiliesTransposonsSubfamilyMonomersProteinLINE1DeletionsTranscriptsInsertion polymorphismsDeletionRestriction endonucleaseExonizationMRNARegulatoryConsensusMeSHTranscriptPreferentiallyPolyA tailEvolutionaryTranscriptionAbsenceCompriseRegionsSplice sitesMammalianAlusEvolutionProteins
Provided the definiti1
- The discovery of Alu subfamilies led to the hypothesis of master/source genes, and provided the definitive link between transposable elements (active elements) and interspersed repetitive DNA (mutated copies of active elements). (wikipedia.org)
Repeats26
- Evidence for co-evolution between human microRNAs and Alu-repeats. (nih.gov)
- This paper connects Alu repeats, the most abundant repetitive elements in the human genome and microRNAs, small RNAs that alter gene expression at the post-transcriptional level. (nih.gov)
- Base-pair complementarity could be demonstrated between the seed sequence of a subset of human microRNAs and Alu repeats that are integrated parallel (sense) in mRNAs. (nih.gov)
- This model includes on one hand the fact that 3p-miRNAs of C19MC are enriched in number and production quantity and on the other hand that gene duplication events leading to growth of the cluster was facilitated by minus strand Alu repeats. (nih.gov)
- Because a similar cluster is found in other primates [16], [24], which share Alu repeats with humans, it can be proposed that Alu expansion and growth of this cluster has occurred in parallel. (nih.gov)
- Alu repeats as transcriptional regulatory platforms in macrophage responses to M. tuberculosis infection. (uchicago.edu)
- RNA editing by adenosine to inosine deamination is a widespread phenomenon, particularly frequent in the human transcriptome, largely due to the presence of inverted Alu repeats and their ability to form double-stranded structures - a requisite for ADAR editing. (biomedcentral.com)
- While several hundred thousand editing sites have been identified within these primate-specific repeats, the function of Alu-editing has yet to be elucidated. (biomedcentral.com)
- We show that inverted Alu repeats, expressed in the primate brain, can induce site-selective editing in cis on sites located several hundred nucleotides from the Alu elements. (biomedcentral.com)
- Adjacent inverted Alu repeats can pair and form long stable stem-loop structures, which are favorable editing substrates, and are also potentially highly abundant in humans (there are 228,607 inverted Alu pairs within 1 kb in genes from the NCBI Reference Sequence (RefSeq) database). (biomedcentral.com)
- GC-rich genomic sequences [include those] such as Alu repeats. (wikiversity.org)
- the decay of methylated CpG dinucleotides into TpG dinucleotides would also tend to increase the pair-wise divergence between Alu repeats over time, thereby decreasing the recombination between elements. (wikiversity.org)
- The deletion is flanked by Alu repeats of the AluS family on both sides and microsatellite genotyping suggested that its occurrence in the two families was the product of recurrent Alu-Alu repeat-mediated nonhomologous recombinations or an old founder effect. (nih.gov)
- Because the GCNT2 locus is rich in Short INterspersed Elements (SINE repeats) and thus likely prone to genomic rearrangements, microdeletions or microduplications at this locus might cause a larger than currently anticipated fraction of apparently isolated autosomal-recessive cataracts. (nih.gov)
- Conformational polymorphysm of G-rich fragments of DNA Alu-repeats. (springer.com)
- We report results of the first systematic study of conformational polymorphism of G-rich DNA fragments of Alu-repeats. (springer.com)
- We suggest that the dynamic study of the spatial organization of Alu repeats may provide insight into the mechanisms of genomic rearrangements responsible for the development of many oncological and neurodegenerative diseases. (springer.com)
- We find that the human MYB locus is flanked by 257-bp Alu repeats and that the duplication is mediated somatically by homologous recombination between the flanking Alu elements on sister chromatids. (umassmed.edu)
- The immediate 5'-flanking region is dominated by a dense cluster of Alu repeats in which are embedded several promoter consensus sequences. (molvis.org)
- We report , for the first time , that mRNAs containing Alu repeats at 3' UTR has a significantly high correlation with processed pseudogenes , suggesting a possibility that Alu containing mRNAs have a high tendency to become processed pseudogenes . (bvsalud.org)
- Therefore, we propose Alu repeats as a new and important factor in the generation of pseudogenes . (bvsalud.org)
- The analysis of SINEs - Short INterspersed Elements - LINEs - Long INterspersed Elements - or truncated LTRs - Long Terminal Repeats - as molecular cladistic markers represents a particularly interesting complement to DNA sequence and morphological data. (wikipedia.org)
- Transposable elements (TEs) along with simple sequence repeats (SSRs) are prevalent in eukaryotic genome, especially in mammals. (frontiersin.org)
- The SVA element consists of a region derived from a SINE‐R element and an Alu ‐like region separated by a variable number of tandem repeats ( VNTR ). (els.net)
- The HERV element consists of three genes ( gag , pol and env ) surrounded by long terminal repeats ( LTR ). (els.net)
- While their role is not fully understood, they are believed to control gene expression at a post-transcriptional level by means of the nuclear retention of mRNA containing in their 3'-UTR inverted repeats of Alu sequences (IRAlu). (elifesciences.org)
Genome71
- Alu elements are the most abundant transposable elements, containing over one million copies dispersed throughout the human genome. (wikipedia.org)
- Alu elements are highly conserved within primate genomes and originated in the genome of an ancestor of Supraprimates. (wikipedia.org)
- The Alu family is a family of repetitive elements in primate genomes, including the human genome. (wikipedia.org)
- There are over one million Alu elements interspersed throughout the human genome, and it is estimated that about 10.7% of the human genome consists of Alu sequences. (wikipedia.org)
- Finally, the AluY elements are the youngest of the three and have the greatest disposition to move along the human genome. (wikipedia.org)
- SINE Alu elements, which appeared in the primate lineage, are ubiquitous in the human genome and more than a thousand overlap annotated coding exons. (mit.edu)
- Substrates for these homologous and homeologous events include Alu elements, which are approximately 300 bp elements that comprise ~11% of the human genome. (prolekare.cz)
- However, with more diverged Alu elements, like those typically found in the human genome, repair of DSBs appears to use the Alu/Alu homeology to direct non-homologous end joining in the general vicinity of the Alu elements. (prolekare.cz)
- One way in which chromosomal rearrangements occur in DSB repair is the use of non-allelic recombination between repetitive elements (reviewed in [ 2 ]), which comprise a large portion of the human genome [ 3 ]. (prolekare.cz)
- Alu elements have amplified over the past 65 million years and occupy about 11% of the human genome, with well over one million copies [ 3 ]. (prolekare.cz)
- Despite this level of sequence divergence, Alu elements represent a major source of sequence homology in the human genome and contribute to genomic instability that arises from mutagenic recombination between these elements [ 4 , 5 ]. (prolekare.cz)
- Alu elements are the most abundant transposable element in the human genome (more than 1 million copies) and their composition and evolution within lncRNA and mRNA differ significantly. (labroots.com)
- Transposable elements are found abundantly in non-coding DNA and the Alu family of SINE transposons accounts for approximately 10% of the total DNA in the human genome ( Cordaux & Batzer, 2009 ). (peerj.com)
- However, most Alu sequences in the genome are members of abundant, formerly active, subfamilies that are now transpositionally inert. (peerj.com)
- As the number of duplicated miRNA genes in the cluster grew, growth rates of Alu declined, preventing catastrophic destruction of germline genome information by Alu. (nih.gov)
- The repetitive retrotransposable Alu elements, each spanning approximately 300 nucleotides, are abundantly interspersed throughout the primate genome and are present in approximately 75% of all human genes, mostly within introns and untranslated regions (UTRs). (biomedcentral.com)
- We have found that, although a region containing a 92-bp exon and an Alu Sq element in the hydroxylase gene is intact in all nonhuman primates examined, the same region in the human genome is replaced by an Alu Y element that was disseminated at least one million years ago. (pnas.org)
- Transposons and transposon-like repetitive elements collectively occupy 44% of the human genome sequence. (genetics.org)
- The oldest L1 elements in the genome have accumulated deleterious mutations that render them inactive. (genetics.org)
- In fact, Alu elements are the most abundant transposable elements in the human genome. (wikiversity.org)
- Alu elements in primates form a fossil record that is relatively easy to decipher because Alu elements insertion events have a characteristic signature that is both easy to read and faithfully recorded in the genome from generation to generation. (wikiversity.org)
- Human chromosomes contain about 1,000,000 Alu copies, which equal 10% of the total genome. (docplayer.net)
- An estimated different Alu elements are found scattered across the human genome. (docplayer.net)
- Using the Alu sequence of the prooncogen bcl2 intron and the consensus AluS x sequence as representative examples, we have determined characteristic Alu sites that are capable of adopting G-quadruplex (GQ) conformations (i.e., potential quadruplex sites-PQSAlu), and demonstrated by bioinformatics methods that these sites are Alu-specific in the human genome. (springer.com)
- LINE1 and Alu retroelements occupy approximately 17 and 13% of the human genome, respectively. (nih.gov)
- Despite the data on the ability of L1 and Alu elements to cause various modifications of the genome, the effects of these retroelements on gene expression have yet not been studied. (nih.gov)
- Genomic database mining has been a very useful aid in the identification and retrieval of recently integrated Alu elements from the human genome. (genetics.org)
- Some members of each of the three subfamilies have inserted in the human genome so recently that about a one-third of the analyzed elements are polymorphic for the presence/absence of the Alu repeat in diverse human populations. (genetics.org)
- Three previously classified Alu Y elements linked with disease belong to the Yc1 subfamily, supporting the retroposition potential of this subfamily and demonstrating that the Alu Y subfamily currently has a very low amplification rate in the human genome. (genetics.org)
- ALU elements have been accumulating in the human genome throughout primate evolution, reaching a copy number of over a million per genome. (genetics.org)
- The vast majority of the Alu elements present in the human genome inserted before the radiation of extant humans and are therefore observed in all individuals in the human population. (genetics.org)
- Several of these new subfamilies appear to originate from an Alu element that fortuitously inserted into a favorable region of the genome capable of supporting Alu retroposition. (genetics.org)
- How repetitive elements, epigenetic modifications, and architectural proteins interact ensuring proper genome expression remains poorly understood. (humantechnopole.it)
- Here, we report regulatory mechanisms unveiling a central role of Alu elements (AEs) and RNA polymerase III transcription factor C (TFIIIC) in structurally and functionally modulating the genome via chromatin looping and histone acetylation. (humantechnopole.it)
- Since the discovery of the high abundance of Alu elements in the human genome the interest for the functional significance of these retrotransposons has been increasing. (thetechnoant.info)
- Alu methylation is correlated with the overall level of DNA methylation and recombination activity of the genome. (beds.ac.uk)
- This information is useful for understanding natural status of Alu in the genome and helpful for developing an optimal assay to quantify Alu hypomethylation. (beds.ac.uk)
- Most Alu CpG sites are deaminated in the genome. (beds.ac.uk)
- A transposable element ( TE, transposon , or jumping gene ) is a DNA sequence that can change its position within a genome , sometimes creating or reversing mutations and altering the cell's genetic identity and genome size . (wikipedia.org)
- Transposable elements make up a large fraction of the genome and are responsible for much of the mass of DNA in a eukaryotic cell . (wikipedia.org)
- Although TEs are selfish genetic elements , many are important in genome function and evolution. (wikipedia.org)
- The active transposable elements (TEs) composed primarily of three mobile element lineages LINE-1, Alu, and SVA comprise approximately 30% of the mass of the human genome. (nih.gov)
- Class I elements, also known as retroelements, mobilize using an RNA intermediate that gets reverse transcribed to generate a new copy in the genome. (nih.gov)
- Surveying TE elements genome-wide and in larger populations is providing novel insights into their functional impact and evolutionary dynamics. (biomedcentral.com)
- We used formaldehyde assisted isolation of regulatory elements (FAIRE) to map genome-wide chromatin conformations. (wiley.com)
- Han K., Lee J., Meyer T., Wang J. , Sen S.K., Sirkanta D., Liang P. and Batzer M.A. (2007) Alu recombination-mediated structural deletions in the chimpanzee genome. (buffalo.edu)
- Alu elements infiltrated the ancestral primate genome about 65 million years ago. (phys.org)
- Contrary to the observed results in the genomes of cattle, sheep, horse, and pig, no endogenous retrovirus-K (ERVK) elements were found in the camel genome. (frontiersin.org)
- Elements like RTE-BovB belonging to LINEs family in cattle and sheep genomes are dramatically higher than genome of dromedary. (frontiersin.org)
- However, LINE1 (L1) and LINE2 (L2) elements cover higher percentage of LINE family in dromedary genome compared to genome of cattle. (frontiersin.org)
- Retrotransposed elements account for ~45% of the human genome ( Deininger and Batzer, 2002 ). (elifesciences.org)
- In biology , a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism , virus , or extrachromosomal DNA or other genetic elements. (wikipedia.org)
- [22] For example, more than a million copies of the Alu sequence are present in the human genome , and these sequences have now been recruited to perform functions such as regulating gene expression . (wikipedia.org)
- Bisulfite-PCR pyrosequencing was used to quantitate DNA methylation in long interspersed nuclear element-1 ( LINE-1 ) and Alu I repetitive elements as a surrogate of genome-wide methylation and examine gene-specific methylation of MAGE-1 and p15 . (aacrjournals.org)
- The investigation was designed to evaluate ( a ) DNA methylation changes in Alu I and long interspersed nuclear element-1 ( LINE-1 ) repetitive elements as a surrogate of genome-wide methylation, ( b ) promoter methylation of p15 and MAGE-1 , and ( c ) changes in allele-specific methylation of H19 to detect LOI. (aacrjournals.org)
- Mobile elements within genomes have driven genome evolution in diverse ways. (sciencemag.org)
- Now mobile elements are becoming useful tools for learning more about genome evolution and gene function. (sciencemag.org)
- If, as many believe, the origins of life are in an "RNA world" followed by reverse transcription into DNA, then mobile elements could have been very early participants in genome formation ( 4 ). (sciencemag.org)
- But how have genes benefited from the genome shaping of mobile elements? (sciencemag.org)
- Mobile elements are DNA sequences that have the ability to integrate into the genome at a new site within their cell of origin ( 5 ). (sciencemag.org)
- With over one million copies, Alu elements are the most abundant repetitive elements in the human genome. (iu.edu)
- In the human genome, the major SINE family is made of so-called "Alu elements. (eurekalert.org)
- There are more than 1 million copies of Alu, comprising more than 10 percent of human DNA, scattered throughout the genome, and some of them are likely still able to jump to new locations. (eurekalert.org)
- In this example, the downstream sequence contains a gene which intron is being spliced out (dashed lines) before transcript integration into the genome by retrotransposition, resulting in the duplication of the L1 element and an intronless version of the original gene. (els.net)
- Here we investigate the large-scale features of Alu and LINE1 spatial arrangement in the human genome by studying the size distribution of interrepeat distances. (mendeley.com)
- The newly identified mechanism involves Alu elements, repetitive DNA elements that spread throughout the genome as primates evolved. (eurekalert.org)
- Alu elements" comprise about one tenth of the human genome, which roughly equals three hundred million DNA base pairs. (icr.org)
- When the distribution of Alu sequences in one organism's genome closely matches the distribution in another, evolutionists have assumed that the two organisms recently shared a common ancestor. (icr.org)
- This observation indicates that most of the Alu sequences in our genome underwent duplication and transposition [i.e., they were copied and distributed] before the divergence of the human and chimpanzee lineages. (icr.org)
- Since the presence and positioning of Alu elements are vital for proper protein production, then they must have been an integrated part of each creature's genome from the beginning, although some of them may certainly have been copied and moved since. (icr.org)
- When it was discovered that more than half of the human genome consists of (remnants of) mobile elements, McClintock's ideas were revived and further developed by Roy Britten and Eric Davidson. (creation.com)
Sequences20
- Recombination between Alu elements can occur through completely identical (homologous) Alu sequences, but most events involve Alu elements with approximately 20% mismatch relative to one another (homeologous), which reflects the average sequence divergence of proximal elements. (prolekare.cz)
- These properties, of some Alu sequences, are unlikely to be neutral in their selective effects. (peerj.com)
- In this model, homology sites of Alu sequences helped duplicating a gene cassette encoding miRNAs, which in turn can target sense Alu sequences and thus alter the fate of free Alu elements. (nih.gov)
- Third, we used a simple algorithm to identify specific sequences that determine splice site selection within specific Alu exons. (psu.edu)
- Finally, by inserting identical exons within different sequences, we demonstrated the importance of flanking genomic sequences in determining whether an Alu exon will undergo exonization. (psu.edu)
- This query yielded 744 exonized Alu sequences that overlap with EST sequences. (psu.edu)
- Since a typical Alu is 300 nt in length, we next filtered out all Alus shorter than 250 nt, leaving 459 sequences. (psu.edu)
- Even though it represents 6 13% of human genomic DNA , Alu sequences are rarely found in coding regions. (bvsalud.org)
- From the results of 427 Alu bisulfite clone sequences, we found that only 27.2% of CpG sites within Alu elements were preserved (4.6 of 17 analyzed CpGs, A ~ Q) and that 86.6% of remaining-CpGs were methylated. (beds.ac.uk)
- As a result, Horie and Honda christened their newfound sequences as EBLNs (or "endogenous Borna-like N" elements). (scienceblogs.com)
- There are several types of non-autonomous elements (Short Interspersed Elements: SINEs, SVAs and processed pseudogenes) that vary regarding their sequences composition and length. (nih.gov)
- In these introns there are large numbers of transposable elements and repeated sequences which promote recombination of nonhomologous genes. (wikipedia.org)
- Our data indicate that Alu elements have contributed to the acquisition of novel protein sequences during primate and human evolution. (biomedcentral.com)
- The InDeL targeted in this study is characterized by a 288 bp Alu element insertion (I). We used DHPLC at nondenaturating conditions to analyze the PCR product with a flow through the chromatographic column under two different gradients based on the differences between D and I sequences. (hindawi.com)
- Many of these noncoding RNAs are copied from repeated DNA sequences called short interspersed nuclear elements (SINEs). (eurekalert.org)
- Likewise, if the distribution of Alu sequences is quite different, this meant that the organisms shared an ancestor in a more distant evolutionary past. (icr.org)
- However, the fact that those human and chimp Alu sequences are in similar places on corresponding chromosomes could just as well indicate that at least some of them were intentionally placed there for a purpose. (icr.org)
- Since the Alu sequences serve a specific and necessary function in the cell, then "this observation" clearly indicates purposeful design, not evolutionary history. (icr.org)
- Thus, Alu sequences can no longer be considered indicators of "evolutionary relatedness. (icr.org)
- Many of those sequences were located in gene deserts, which are in fact so clogged with regulatory DNA elements that they have recently been renamed regulatory jungles . (creation.com)
Primates8
- The study of Alu elements has also been important in elucidating human population genetics and the evolution of primates, including the evolution of humans. (wikipedia.org)
- Most human Alu element insertions can be found in the corresponding positions in the genomes of other primates, but about 7,000 Alu insertions are unique to humans. (wikiversity.org)
- Both primates and rodents have also MIR (mammalian-wide interspersed repeat) elements which are ancient tRNA-derived SINEs. (thetechnoant.info)
- These Alu exon peptides represent species-specific protein differences between primates and other mammals, and in certain instances between humans and closely related primates. (biomedcentral.com)
- We have also found that B SINES in mouse, which evolved independently of Alu elements in primates, also populate mRNA 3'UTRs and lncRNAs and can likewise base-pair to form SBSs and trigger SMD (Wang et al. (rochester.edu)
- This evolutionary tree shows the split between primate and rodent lineages about 90 million years ago, before the emergence of Alu elements in primates and B/ID elements in rodents. (eurekalert.org)
- Most of this editing is in Alu element transcripts, which are unique to primates. (semanticscholar.org)
- But Longo found something different - short pieces of DNA called Alu elements that are unique to humans and other primates. (discovermagazine.com)
Genes18
- These elements are mostly found in introns and upstream regulatory elements of genes. (wikipedia.org)
- Alu elements are responsible for regulation of tissue-specific genes. (wikipedia.org)
- Although almost all Alu-derived coding exons appear to be in alternative transcripts, they have been incorporated into the main coding transcript in at least 11 genes. (mit.edu)
- Transposition of this element into coding and regulatory regions of genes is responsible for many heritable diseases. (umassmed.edu)
- The individual miRNA genes within this cluster are flanked by an Alu-LINE signature, which has been duplicated with the clustered miRNA genes. (nih.gov)
- Alu elements were used as a marker for chromosomes and chromosome bands rich in genes. (wikiversity.org)
- Using the RT PCR method, we analyzed the pre-mRNA (heterogeneous nuclear RNA) content of allele pairs of four genes in five human cell lines, heterozygous with respect to intronic inserts of L1 and Alu elements. (nih.gov)
- This research was extended to mouse and rat genomes and the results accordingly reveal overrepresentation of 3'UTR-embedded B1 (Alu-like) elements in PP mother or WAY-100635 father genes. (thetechnoant.info)
- Completely our outcomes suggest a book part for Alu or Alu-like components inside 3'UTRs as facilitators from the genesis of PPs especially in lowly indicated genes. (thetechnoant.info)
- Transposed genes at 3' UTR without Alu repeat have about two processed pseudogenes per gene on average while we found with statistical significance that a transposed gene with Alu had over three processed Pseudogenes on average. (bvsalud.org)
- While the total number of cellular genes has remained relatively conserved in the course of mammalian evolution, the genomic mass occupied by transposable elements populating mammalian genomes has grown up to as much as 52% (58,65,79,94,119,126). (bioscience.org)
- Virtually, all human genes contain an Alu element in at least one intron. (elifesciences.org)
- The most highly conserved noncoding elements (HCNEs) in mammalian genomes cluster within regions enriched for genes encoding developmentally important transcription factors (TFs). (psu.edu)
- Indeed, mobile elements and genes appear to have forged a mutually beneficial relationship. (sciencemag.org)
- It is clear how mobile elements benefit from genes, because without genes they cannot survive from one generation to the next. (sciencemag.org)
- Here, I concentrate on how mobile elements have affected the evolution of genes and their function, particularly of humans and other mammals. (sciencemag.org)
- These elements have terminal LTRs and slightly overlapping ORFs for their group-specific antigen ( gag ), protease ( prt ), polymerase ( pol ), and envelope ( env ) genes. (sciencemag.org)
- Most of the short DNA elements cluster near genes that play a decisive role during an organism's first weeks after conception. (creation.com)
Short INterspersed Elements3
- Alu elements are classified as SINEs, or Short INterspersed Elements. (docplayer.net)
- Alu retrotransposons are primate-specific short interspersed elements. (springer.com)
- Over the past 15 years, our discovery and subsequent work on the mechanism of Staufen (Stau)-mediated mRNA decay (SMD) has uncovered new roles for cytoplasmic long non-coding RNAs (lncRNAs) and retrotransposon-derived short interspersed elements (SINEs) in post-transcriptional gene regulation. (rochester.edu)
RNAs12
- Alu elements are retrotransposons and look like DNA copies made from RNA polymerase III-encoded RNAs. (wikipedia.org)
- Kim EZ, Wespiser AR, Caffrey DR. The domain structure and distribution of Alu elements in long noncoding RNAs and mRNAs. (umassmed.edu)
- DICER1 knockdown induces accumulation of Alu RNA in human RPE cells and Alu-like B1 and B2 RNAs in mouse RPE. (nih.gov)
- Antisense oligonucleotides targeting Alu/B1/B2 RNAs prevent DICER1 depletion-induced RPE degeneration despite global miRNA downregulation. (nih.gov)
- In contrast, nuclear retention is promoted by specialized cis -elements found in certain RNAs. (frontiersin.org)
- reteroelements move by retrotransposition high copy number possible as several RNAs can be transcribed froma s ingle class 1 element. (brainscape.com)
- 2007, EMBO J, 26:2670-2681) but also by intermolecular base-pairing either between the Alu element of an mRNA 3'UTR and a partially complementary Alu element in one or more Alu element-containing long noncoding (lnc)RNAs (Gong and Maquat, 2011, Nature, 470:284-288) or between the 3'UTR Alu elements of two different mRNAs (Gong et al. (rochester.edu)
- Maquat discovered that Alu elements team up with molecules called long noncoding RNAs (lncRNAs) to regulate protein production. (eurekalert.org)
- Previously, no one knew what Alu elements and long noncoding RNAs did, whether they were junk or if they had any purpose. (eurekalert.org)
- Maquat and the study's first author, Chenguang Gong, a graduate student in the Department of Biochemistry and Biophysics at the Medical Center, found that long noncoding RNAs and Alu elements work together to trigger a process known as SMD (Staufen 1-mediated mRNA decay). (eurekalert.org)
- Specifically, long noncoding RNAs and Alu elements recruit the protein Staufen-1 to bind to numerous mRNAs. (eurekalert.org)
- In Nucleic Acids Research this week: pipeline for genotyping Alu retrotransposon mobile element insertions, previously undocumented non-coding RNAs, and more. (genomeweb.com)
Genomes17
- Transposable elements colonize genomes and with time may end up being incorporated into functional regions. (mit.edu)
- Mutagenic NHEJ repair involving divergent Alu elements may represent a common repair event in primate genomes. (prolekare.cz)
- [7] Alu elements of different kinds occur in large numbers in primate genomes. (wikiversity.org)
- Nevertheless rodent genomes possess other SINEs named B1 elements which are Alu-like elements with a monomeric structure and a length of approximately 140 bp [3]. (thetechnoant.info)
- Interestingly old free Alu monomers which predate the first dimeric element are still present in primate genomes [4 5 Phylogenetic studies indicate that the monomers of Alu and the B1 elements originated from the gene that encodes WAY-100635 the 7SL RNA the RNA component of the signal recognition particle (SRP) which is the ribonucleoprotein that targets secreted proteins to the endoplasmic reticulum [3-6]. (thetechnoant.info)
- Rodent genomes have in addition B2 and ID elements which are tRNA-derived SINEs and B4 elements which resemble a fusion between B1 and ID elements. (thetechnoant.info)
- Mammalian transposable elements have been restructuring their host genomes for millions of years, to both deleterious and advantageous effects. (bioscience.org)
- 2010. Endogenous non-retroviral RNA virus elements in mammalian genomes. (scienceblogs.com)
- Transposable elements (TEs) represent a variable but often sizeable fraction of genomes (e.g. (biomedcentral.com)
- Alu elements are major contributors to lineage-specific new exons in primate and human genomes. (biomedcentral.com)
- Mobile, or transposable, elements are prevalent in the genomes of all plants and animals. (sciencemag.org)
- This study highlights the importance of noncoding RNA and transposable elements in the regulation of gene expression and in the evolution of gene expression networks in mammalian genomes," said coauthor Manuel Ares, professor of molecular, cell, and developmental biology at UC Santa Cruz. (eurekalert.org)
- Evidence is accumulating that transposable elements, including retrotransposons (which account for about 90% of all transposable elements inserted in primate genomes), are potent mediators of new gene origination. (els.net)
- Evolutionists have generally assumed that Alu elements arose through being copied and spliced throughout various animals' genomes. (icr.org)
- More than 99% of the one million copies of the Alu family of retrotransposons that are present in both [human and chimpanzee] genomes are in corresponding positions. (icr.org)
- DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration ,' Nature 17 March 2011) now points to one likely cause of AMD, and in the process provides a chilling example of what can happen when the parasitic Alu elements in our genomes (see the previous post for an introduction) are left unrestrained. (blogspot.com)
- There is, in fact, some scientific disagreement about functions of various elements in genomes, but it's not the crude standoff that ID apologists depict, and it has very little to do with 'Darwinism. (blogspot.com)
Insertions7
- Alu insertions have been implicated in several inherited human diseases and in various forms of cancer. (wikipedia.org)
- Polymorphisms for Alu insertions have been much studied as a tool in human population genetic inference, particularly because the absence of the element can always be identified as the ancestral state ( Batzer & Deininger, 2002 ). (peerj.com)
- Expression vectors bearing wild-type and mutant Alu insertions in the promoter regions of the reporter gene have been prepared, and their regulatory effects have been compared during transfection of НЕК293 and HeLa cells. (springer.com)
- Like other structural variants, transposable element insertions can be highly polymorphic across individuals. (biomedcentral.com)
- We describe a high-throughput method for genotyping transposable element insertions and other types of structural variants that can be assayed by breakpoint PCR. (biomedcentral.com)
- Other LTR retrotransposons that are responsible for most mobile-element insertions in mice are the intracisternal A-particles (IAPs), early transposons (Etns), and mammalian LTR-retrotransposons (MaLRs). (sciencemag.org)
- Particularly interesting is the finding that all identified lineage-specific SINE elements show a strong tendency to insert within or in very close proximity to the preexisting MIRs for their efficient integrations, suggesting that the MIR element is a hot spot for successive insertions of other SINEs. (deepdyve.com)
Sequence17
- They are replicated as any other DNA sequence, but depend on LINE retrotransposons for generation of new elements. (wikipedia.org)
- The Alu sequence family (named for the restriction endonuclease cleavage enzyme Alu I) is the most highly repeated interspersed repeat element in humans (over a million copies). (umassmed.edu)
- Either single-strand annealing (SSA) repair or microhomology-mediated end joining occurs 'in register' between two Alu elements when Alu sequence divergence is low. (prolekare.cz)
- These results indicate that this cis -acting structural element, downstream of the sequence required for A-to-I catalysis, increases the local concentration of the editing enzyme by attracting ADAR, thus enabling editing in the vicinity. (biomedcentral.com)
- However, you will first amplify a nucleotide sequence from your own 8 th chromosome, to look for an insertion of a short DNA sequence, called Alu, within the tissue plasminogen activator (TPA) gene. (docplayer.net)
- All Alu elements are approximately 300-bp in length and derive their name from a single recognition site for the endonuclease Alu I, located near the middle of the Alu sequence. (docplayer.net)
- This yielded all Alu elements without and with an overlap of at least one expressed sequence tag (EST), in the case of the intronic and exonic data sets, respectively. (psu.edu)
- An analysis of C. elegans transposable elements =-=[25,26]-=- revealed that a 205-bp ITR sequence within Turmoil-1 is highly similar to a region of two exons separated by an intron of the rsp-2 gene (see pairwise alignment using bl2seq [27] Figure 1B). (psu.edu)
- These sites were found to be characteristic of young (active) Alu families (Alu-Y). A recombinant DNA sequence bearing the Alu element of the human bcl2 gene (304 bp) and its PQS-mutant (Alu-PQS) were constructed. (springer.com)
- The 17 CpG sites are marked with the capital letters (A-Q) above the Alu consensus sequence (Ref. [ 15 ]) and highlighted in the colour pink. (beds.ac.uk)
- The appreciation for TE modification of mammalian gene expression gained significant interest after the discoveries that the majority of transposable elements either carry cis -acting elements in their sequence that are recognized by the mammalian transcriptional or RNA processing machineries or have high propensity for accrual of these cis -signals via mutations long after the completion of the integration process. (bioscience.org)
- This insertion sequence is an Alu element (three Alu-repeat). (hindawi.com)
- Activation of the cryptic donor (d) and acceptor (a) splice sites of an Alu element (black arrow) inserted in opposite orientation relative to gene transcription in the first intron leads to integration of noncoding Alu sequence in the gene's transcript (dashed lines below gene) and conversion to coding sequence. (els.net)
- Ectopic recombination (crossed thin lines) between two intronic Alu elements (dashed arrows) leads to the deletion of the intervening sequence containing the entire white exon (middle). (els.net)
- The transcript therefore consists of the L1 RNA sequence, followed by the downstream sequence flanking the L1 element and a poly A tail (bottom). (els.net)
- The differences include 'cytogenetic differences, differences in the type and number of repetitive genomic DNA and transposable elements, abundance and distribution of endogenous retroviruses, the presence and extent of allelic polymorphisms, specific gene inactivation events, gene sequence differences, gene duplications, single nucleotide polymorphisms, gene expression differences, and messenger RNA splicing variations. (answersingenesis.org)
- A certain kind of repetitive DNA sequence called an Alu element was found to limit the number of protein copies made in the cell. (icr.org)
Recombination6
- Furthermore, Alu/Alu recombination is estimated to cause as many as 0.5% of all new genetic diseases and is responsible for mutations that contribute to human cancers [ 4 - 6 ]. (prolekare.cz)
- For the purposes of this study, we will refer to any DNA repair event that occurs through either homologous or homeologous recombination between two non-allelic Alu elements and generates a single chimeric, Alu element, as Alu/Alu recombination. (prolekare.cz)
- One is loss of exon 34 in the tropoelastin gene, which was possibly facilitated by Alu -mediated recombination events ( 6 ). (pnas.org)
- The broken chromosome has been stabilised with a newly positioned telomere acquired by recombination between this 16p Alu element and a closely related subtelomeric Alu element of the Sx subfamily. (ox.ac.uk)
- Possible CNV formation based on Alu-mediated homologous recombination model. (cdc.gov)
- Estimation of total methylation content of Alu elements is useful for evaluation of the global genomic methylation status and level of homologous and non-homologous chromatin recombination in gene-rich regions. (beds.ac.uk)
Retrotransposons9
- The second most abundant class of transposons in humans, the LINE (L1) elements, are autonomous poly(A) retrotransposons ( O stertag and K azazian 2001 and references therein). (genetics.org)
- Alu elements do not encode for protein products and depend on LINE retrotransposons for their replication. (wikiversity.org)
- SINEs lack protein-coding capability and since the 1990s it had been hypothesized that their retrotransposition is driven by long interspersed nucleotide elements (LINEs) retrotransposons that are transcribed by RNA polymerase II (Pol II) and encode the enzymes required for their mobility [8]. (thetechnoant.info)
- Alu elements are retrotransposons that frequently form new exons during primate evolution. (elifesciences.org)
- These elements include (i) DNA transposons, (ii) autonomous retrotransposons, and (iii) nonautonomous retrotransposons ( Fig. 1 ). (sciencemag.org)
- The mechanism by which many of these elements move is well known, but for others, such as mammalian retrotransposons, there is still much to learn. (sciencemag.org)
- Examples of LTR retrotransposons are human endogenous retroviruses (HERV) (shown) and various Ty elements of S. cerevisiae (not shown). (sciencemag.org)
- Alu and SVA elements are nonautonomous retrotransposons that hijack the molecular retrotransposition machinery of the autonomous L1 element to mediate their own retrotransposition. (els.net)
- Alteration of gene structure mediated by Alu retrotransposons. (els.net)
Exons21
- The extent to which Alu regions are incorporated into functional proteins is unclear, but we detected reliable peptide evidence to support the translation to protein of 33 Alu-derived exons. (mit.edu)
- All but one of the Alu elements for which we detected peptides were frame-preserving and there was proportionally seven times more peptide evidence for Alu elements as for other primate exons. (mit.edu)
- Despite this strong evidence for translation to protein we found no evidence of selection, either from cross species alignments or human population variation data, among these Alu-derived exons. (mit.edu)
- Alternative splicing of Alu exons--two arms are better than one. (psu.edu)
- Comparative meta-analysis with the 80 other CNV cases from 12 publications describing STK11 mutations in patients with PJS revealed the participation of specific Alu elements in all deletions of exons 2-3 so far described. (cdc.gov)
- Recent studies indicate that some Alu exons have high transcript inclusion levels or tissue-specific splicing profiles, and may play important regulatory roles in modulating mRNA degradation or translational efficiency. (biomedcentral.com)
- However, the contribution of Alu exons to the human proteome remains unclear and controversial. (biomedcentral.com)
- The prevailing view is that exons derived from young repetitive elements, such as Alu elements, are restricted to regulatory functions and have not had adequate evolutionary time to be incorporated into stable, functional proteins. (biomedcentral.com)
- We adopt a proteotranscriptomics approach to systematically assess the contribution of Alu exons to the human proteome. (biomedcentral.com)
- Using RNA sequencing, ribosome profiling, and proteomics data from human tissues and cell lines, we provide evidence for the translational activities of Alu exons and the presence of Alu exon derived peptides in human proteins. (biomedcentral.com)
- Together, these data have established the regulatory roles of Alu exons in multiple aspects of RNA metabolism including translation and degradation. (biomedcentral.com)
- They identified numerous instances of 'in-frame' Alu exons in the coding region of human mRNAs that are predicted to add Alu -derived peptides to the protein products. (biomedcentral.com)
- Here, we assess the interplay of splicing repression by hnRNPC and nonsense-mediated mRNA decay (NMD) in the quality control and evolution of new Alu-exons. (elifesciences.org)
- We identify 3100 new Alu-exons and show that NMD more efficiently recognises transcripts with Alu-exons compared to other exons with premature termination codons. (elifesciences.org)
- However, some Alu-exons escape NMD, especially when an adjacent intron is retained, highlighting the importance of concerted repression by splicing and NMD. (elifesciences.org)
- Once the 3' splice site at ancient Alu-exons reaches a stable phase, splicing repression by hnRNPC decreases, but the exons generally remain sensitive to NMD. (elifesciences.org)
- Thus, it is important to understand the protective molecular mechanisms imposing constraints on the emergence and expression of Alu-exons. (elifesciences.org)
- Thus, the U-tract:hnRNPC interaction is crucial to prevent the splicing machinery from accessing cryptic splice sites at Alu-exons. (elifesciences.org)
- However, the total number of Alu-exons regulated by hnRNPC is likely to be even larger, since Alu-exon-containing transcripts (Alu-exon transcripts) may evade detection if they are unstable. (elifesciences.org)
- Moreover, most Alu-exons will introduce a premature termination codon (PTC) into the transcript, and Alu-exon transcripts are therefore likely to be targeted by nonsense-mediated mRNA decay (NMD). (elifesciences.org)
- a) Alu exonization: a hypothetical gene constituted of three exons (light grey, white and dark grey boxes) is shown with its splicing pattern (dashed lines above gene). (els.net)
Repetitive elements4
- Repetitive elements are a major component of lncRNA and their molecular functions in lncRNA are poorly understood. (labroots.com)
- Rusiecki JA, Chen L, Srikantan V, Zhang L, Yan L, Polin ML, Baccarelli A. DNA methylation in repetitive elements and post-traumatic stress disorder: a case-control study of US military service members. (uchicago.edu)
- The Alu element is a member of the SINE family of repetitive elements. (beds.ac.uk)
- Spatial distribution and clustering of repetitive elements are extensively studied during the last years, as well as their colocalization with other genomic components. (mendeley.com)
Retrotransposon4
- These findings reveal a miRNA-independent cell survival function for DICER1 involving retrotransposon transcript degradation, show that Alu RNA can directly cause human pathology, and identify new targets for a major cause of blindness. (nih.gov)
- The "presence" of a given retrotransposon in related taxa suggests their orthologous integration, a derived condition acquired via a common ancestry, while the "absence" of particular elements indicates the plesiomorphic condition prior to integration in more distant taxa. (wikipedia.org)
- Chromatin of major retrotransposon classes, Alu, SVA and L1, becomes relatively more open in senescent cells, affecting most strongly the evolutionarily recent elements, and leads to an increase in their transcription and ultimately transposition. (wiley.com)
- An Alu element is an example of a nonautonomous retrotransposon. (sciencemag.org)
SINEs3
- Modern Alu elements are about 300 base pairs long and are therefore classified as short interspersed nuclear elements (SINEs) among the class of repetitive DNA elements. (wikipedia.org)
- instead it has a distinct set of SINEs called B/ID elements. (eurekalert.org)
- These SINEs include human Alu elements and mouse B1, B2, B4 and ID elements. (rochester.edu)
Copies3
- Each Alu family contains a unique set of diagnostic base changes that can be used to identify copies belonging to that family. (genetics.org)
- However, most of these Alu copies are not identical and can be classified into several subfamilies (reviewed in D eininger and B atzer 1993 ). (genetics.org)
- The total number of copies of B1 B2 B4 and ID elements in mouse (1.4 millions) surpasses that of human Alu elements [7]. (thetechnoant.info)
MRNAs3
- Thus, we have defined unexpected roles for Alu elements, lncRNAs and mRNAs. (rochester.edu)
- In other studies, we have found that STAU1 (and probably STAU2) binding to 3'UTR inverted Alu elements competes with binding of the largely nuclear paraspeckle protein p54nrb and largely cytoplasmic protein kinase R (PKR) to mediate, respectively, the nuclear export and cytoplasmic translation of a number of mRNAs that contain these elements. (rochester.edu)
- Here, we report that human mRNAs containing inverted Alu elements are present in the mammalian cytoplasm. (iu.edu)
Intron4
- One such Alu element, called TPA-25, is found within an intron of the tissue plasminogen activator (TPA) gene. (docplayer.net)
- Allele 5 of a tetranucleotide polymorphism in an Alu element (GXAlu) localized in intron 27b of the NF1 gene has previously been associated with autism. (cdc.gov)
- Zhang, Ya-ping 2005-10-14 00:00:00 An analysis of the nuclear β-fibrinogen intron 7 locus from 30 taxa representing 12 placental orders of mammals reveals the enriched occurrences of short interspersed element (SINE) insertion events. (deepdyve.com)
- element in intron 16 [5]. (deepdyve.com)
Antisense2
- antisense orientation, as observed for the ADAR Alu exon. (psu.edu)
- Furthermore the insertion of IRAlu at the 3'-UTR of the EGFP cDNA led to a rhythmic circadian nuclear retention of the egfp mRNA that was lost when paraspeckles were disrupted whereas insertion of a single antisense Alu had only a weak effect. (elifesciences.org)
Humans5
- Several Alu subfamilies are known to be actively transposing and it is thought that a new insertion occurs approximately every 20 births in humans ( Cordaux & Batzer, 2009 ). (peerj.com)
- Subsequently retrotransposition of Alu B1 and B2 elements mediated by L1 (or LINE1) a LINE present in all mammals was formally demonstrated [9 10 L1 is the only currently active autonomous transposon in humans [2 11 L1 elements have two open reading frames (ORF1 and ORF2) that encode two proteins critical for the process of retrotransposition. (thetechnoant.info)
- Alu RNA is increased in the RPE of humans with GA, and this pathogenic RNA induces human RPE cytotoxicity and RPE degeneration in mice. (nih.gov)
- Shown is Alu an active SINE in humans. (nih.gov)
- These elements are not present in humans, and essentially all are defective, so the source of their RT in trans remains unknown. (sciencemag.org)
Encode2
- Alu elements do not encode for protein products. (wikipedia.org)
- In the case of the RNA editing enzyme ADARB1, which contains an Alu exon peptide in its catalytic domain, RNA sequencing analyses of A-to-I editing demonstrate that both the Alu exon skipping and inclusion isoforms encode active enzymes. (biomedcentral.com)
Transposition1
- Bailey JA, Liu G and Eichler EE (2003) An Alu transposition model for the origin and expansion of human segmental duplications. (els.net)
Study of Alu elements1
- The study of Alu elements thus reveals details of ancestry because individuals will only share a particular Alu element insertion if they have a common ancestor. (wikiversity.org)
Subfamilies3
- In 1988, Jerzy Jurka and Temple Smith discovered that Alu elements were split in two major subfamilies known as AluJ (named after Jurka) and AluS (named after Smith), and other Alu subfamilies were also independently discovered by several groups. (wikipedia.org)
- We analyzed Alu elements retrieved from the GenBank database and identified two new Alu subfamilies, Alu Yb9 and Alu Yc2, and further characterized Yc1 subfamily members. (genetics.org)
- Subsequent or concurrent mutations in the new source element(s) result in groups of elements that are identifiable as new subfamilies. (genetics.org)
Transposons2
Subfamily4
- Later on, a sub-subfamily of AluS which included active Alu elements was given the separate name AluY. (wikipedia.org)
- These observations have been made by relying on the subfamily as a proxy for age of an element. (peerj.com)
- We show that the previously-reported effect of GC content correlating with subfamily age is not reflected by the ages of the individual elements. (peerj.com)
- The link between Alu subfamily age and GC region was made due to an over-simplification of the data and is incorrect. (peerj.com)
Monomers2
- Expressed another way, it is believed modern Alu elements emerged from a head to tail fusion of two distinct FAMs (fossil antique monomers) over 100 million years ago, hence its dimeric structure of two similar, but distinct monomers (left and right arms) joined by an A-rich linker. (wikipedia.org)
- Free-floating forms of the left and right arms exist, termed free left Alu monomers (FLAMs) and free right Alu monomers (FRAMs) respectively. (wikipedia.org)
Protein2
- The Alu exon derived peptide may fine tune the overall editing activity and, in limited cases, the site selectivity of ADARB1 protein products. (biomedcentral.com)
- A cis-acting element in the 3'-untranslated region of human TNF-alpha mRNA renders splicing dependent on the activation of protein kinase PKR. (semanticscholar.org)
LINE11
- Alu and LINE1 distributions in th. (mendeley.com)
Deletions2
- We use a new reporter assay to show that repair of DSBs results in Alu-mediated deletions that resolve through several distinct repair pathways. (prolekare.cz)
- A number of different pathways can give rise to these Alu/Alu deletions, including single-strand annealing (SSA) repair that may predominate when there are high levels of homology, and mechanisms such as microhomology-mediated end joining (MMEJ) where the microhomology happens to be 'in register' between the two Alu elements, allowing formation of a single chimeric Alu element [ 7 ]. (prolekare.cz)
Transcripts1
- Possible editing of Alu transcripts in blood cells of sporadic Creutzfeldt-Jakob disease (sCJD). (semanticscholar.org)
Insertion polymorphisms2
- The average human in our study was estimated to harbor 1283 Alu insertion polymorphisms, 180 L1 polymorphisms, 56 SVA polymorphisms, and 17 polymorphisms related to other forms of mobilized DNA. (genetics.org)
- These newly identified Alu insertion polymorphisms will serve as identical-by-descent genetic markers for the study of human evolution and forensics. (genetics.org)
Deletion4
- Knight Johnson A, Schaefer GB, Lee J, Hu Y, Del Gaudio D. Alu-mediated deletion of PIGL in a Patient with CHIME syndrome. (uchicago.edu)
- An Alu-mediated rearrangement causing a 3.2kb deletion and a novel two base pair deletion in AAAS gene as the cause of triple A syndrome. (uchicago.edu)
- Here we present a novel 7001 bps deletion of STK11 gene fragment, in which we identified the presence of breakpoints (BPs) within the Alu elements. (cdc.gov)
- Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements . (wikipedia.org)
Restriction endonuclease1
- An Alu element is a short stretch of DNA originally characterized by the action of the Arthrobacter luteus (Alu) restriction endonuclease. (wikipedia.org)
Exonization4
- Exonization of Alu elements creates primate-specific genomic diversity. (psu.edu)
- Our analyses revealed an intricate network involved in Alu exonization. (psu.edu)
- Overall, our results demonstrate the complex interplay between at least four interacting layers that affect Alu exonization. (psu.edu)
- These results shed light on the mechanism through which Alu elements enrich the primate transcrip-tome and allow a better understanding of the exonization process in general. (psu.edu)
MRNA3
- Here, I describe the evolution of Alu elements in lncRNA and mRNA. (labroots.com)
- We showed for the first time a tissue-specific decrease in the pre-mRNA content of the gene allele bearing L1 or Alu inserts relative to the other allele of the same gene lacking the retroelement. (nih.gov)
- 2011. lncRNAs transactivate STAU1-mediated mRNA decay by duplexing with 3′ UTRs via Alu elements. (icr.org)
Regulatory2
- We have characterised a subtelomeric rearrangement involving the short arm of chromosome 16 that gives rise to alpha-thalassaemia by deleting the major, remote regulatory element controlling alpha-globin expression. (ox.ac.uk)
- A team of investigators lead by Haussler recently provided direct evidence that even when a short interspersed nucleotide element (SINE) lands at some distance from a gene, it can take on a regulatory role with powerful regulatory functions. (creation.com)
Consensus2
- Two main promoter "boxes" are found in Alu: a 5' A box with the consensus TGGCTCACGCC, and a 3' B box with the consensus GWTCGAGAC (IUPAC nucleic acid notation). (wikipedia.org)
- The majority of identified Alu elements diverge 4%-20% from the consensus [ 3 ]. (prolekare.cz)
MeSH1
- Alu Elements" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (umassmed.edu)
Transcript1
- This is of great interest as Alu is a retro-element that can transpose in a cycle containing a free Alu transcript, which is always in sense orientation. (nih.gov)
Preferentially1
- Instead, elements are preferentially lost from areas of high GC content over time. (peerj.com)
PolyA tail1
- The length of the polyA tail varies between Alu families. (wikipedia.org)
Evolutionary6
- Overall, our results confirm that SINE Alu elements have contributed to the expansion of the human proteome, and this contribution appears to be stronger than might be expected over such a relatively short evolutionary timeframe. (mit.edu)
- The most common target site coincides with the evolutionary most conserved part of Alu. (nih.gov)
- Thus, a dual relationship exists between an evolutionary young miRNA cluster and their Alu targets that may have evolved in the same time window. (nih.gov)
- Because many of the Alu elements within C19MC are evolutionary old (AluJ and AluS), expansion of the cluster may have occurred at an early wave of expansion of the Alu elements. (nih.gov)
- The target sites are relatively unspecific so that the chance of an independent integration of exactly the same element into one specific site in different taxa is not large and may even be negligible over evolutionary time scales. (wikipedia.org)
- The so-called 'junk' DNAs that have perplexed creationists and evolutionary scientists alike may be the very elements that can explain the mechanisms by which God is at work in His creation now and in the past. (creation.com)
Transcription3
- The GC elements are bound by transcription factors and have similar functions to enhancers. (wikiversity.org)
- However, stress-induced demethylation of these CpGs could reactivate Alu transcription. (beds.ac.uk)
- RNA transcription starts at the 5′ end of the L1 element (thin horizontal arrow) and normally proceeds down to the L1 polyadenylation signal, resulting in transcription termination. (els.net)
Absence2
- The size of the amplification product(s) will depend upon the presence or absence of the Alu insertion at the TPA-25 locus on each copy of chromosome 8. (docplayer.net)
- The formation of noncanonical structures in Alu bcl2 dsDNA and their absence in the case of Alu-PQS have been shown using DMS-footprinting and atomic force microscopy (AFM). (springer.com)
Comprise1
- The autonomous retroelements comprise the LTR-retroelements or endogenous retroviruses (ERVs) and the non-LTR retroelements also known as Long INterspersed Elements (LINEs). (nih.gov)
Regions5
- The currently-accepted dogma when analysing human Alu transposable elements is that 'young' Alu elements are found in low GC regions and 'old' Alus in high GC regions. (peerj.com)
- 1 Exercise 5: Detection of a Human Alu Element by PCR (adapted from Dolan DNA Learning Center, Cold Spring Harbor Laboratory, NY and Science Outreach, Washington University, St. Louis, MO) Background Information Although the DNA from different individuals is more alike than different, there are many regions of the human chromosomes that exhibit a great deal of diversity. (docplayer.net)
- Alu elements are mainly distributed in gene-rich regions. (beds.ac.uk)
- While the disruption of normal gene function by transposable elements upon integration into exonic regions is obvious, their post-insertional effects on gene expression have not received much attention. (bioscience.org)
- The L1 element consists of two open reading frames ( ORF 1 and ORF 2) surrounded by 5′ and 3′ untranslated regions ( UTR ). (els.net)
Splice sites1
- A typical Alu element contains multiple sites with the potential to serve as 5 splice sites (5ss). (psu.edu)
Mammalian1
- Historically the accumulated mass of mammalian transposable elements (TEs), particularly those located within gene boundaries, was viewed as a genetic burden potentially detrimental to the genomic landscape. (bioscience.org)
Alus3
- The younger AluS lineage is about 30 million years old and still contains some active elements. (wikipedia.org)
- B1 elements in rats and mice are similar to Alus in that they also evolved from 7SL RNA, but they only have one left monomer arm. (wikipedia.org)
- 95% percent of human Alus are also found in chimpanzees, and 50% of B elements in mice are also found in rats. (wikipedia.org)
Evolution2
Proteins2
- Since that time, her laboratory has developed a monoclonal antibody to one of the proteins encoded for by Long INterspersed Element-1 (LINE-1) and showed its aberrant expression in a wide breadth of human cancers. (hopkinsmedicine.org)
- We are additionally extending our studies of inverted-repeat Alu elements (IRAlus) and how competitive binding among the many nuclear and cytoplasmic double-stranded RNA binding proteins influence nuclear and cytoplasmic IRAlus-containing RNA metabolism. (rochester.edu)