Alu Elements
Repetitive Sequences, Nucleic Acid
Long Interspersed Nucleotide Elements
Short Interspersed Nucleotide Elements
DNA Transposable Elements
Genome, Human
Base Sequence
Molecular Sequence Data
Primates
Retroelements
Strepsirhini
Sequence Homology, Nucleic Acid
Exons
3' Flanking Region
Hominidae
Response Elements
Cercopithecidae
Introns
RNA Editing
Promoter Regions, Genetic
Pan troglodytes
Enhancer Elements, Genetic
Evolution, Molecular
Transcription, Genetic
DNA
RNA Polymerase III
Mutagenesis, Insertional
Genes, Neurofibromatosis 1
Gorilla gorilla
Regulatory Sequences, Nucleic Acid
Gene Conversion
Inosine
Sequence Alignment
Gene Expression Regulation
Polymerase Chain Reaction
Sequence Analysis, DNA
Chromosome Breakage
Consensus Sequence
CpG Islands
HeLa Cells
Cloning, Molecular
Terminal Repeat Sequences
RNA, Messenger
Restriction Mapping
Chromosome Mapping
Binding Sites
Gene Rearrangement
Computational Biology
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)Alu elements are short, repetitive sequences of DNA that are found in the genomes of primates, including humans. These elements are named after the restriction enzyme Alu, which was used to first identify them. Alu elements are derived from a 7SL RNA molecule and are typically around 300 base pairs in length. They are characterized by their ability to move or "jump" within the genome through a process called transposition.
Alu elements make up about 11% of the human genome and are thought to have played a role in shaping its evolution. They can affect gene expression, regulation, and function, and have been associated with various genetic disorders and diseases. Additionally, Alu elements can also serve as useful markers for studying genetic diversity and evolutionary relationships among primates.
Repetitive sequences in nucleic acid refer to repeated stretches of DNA or RNA nucleotide bases that are present in a genome. These sequences can vary in length and can be arranged in different patterns such as direct repeats, inverted repeats, or tandem repeats. In some cases, these repetitive sequences do not code for proteins and are often found in non-coding regions of the genome. They can play a role in genetic instability, regulation of gene expression, and evolutionary processes. However, certain types of repeat expansions have been associated with various neurodegenerative disorders and other human diseases.
Long Interspersed Nucleotide Elements (LINEs) are a type of mobile genetic element, also known as transposable elements or retrotransposons. They are long stretches of DNA that are interspersed throughout the genome and have the ability to move or copy themselves to new locations within the genome. LINEs are typically several thousand base pairs in length and make up a significant portion of many eukaryotic genomes, including the human genome.
LINEs contain two open reading frames (ORFs) that encode proteins necessary for their own replication and insertion into new locations within the genome. The first ORF encodes a reverse transcriptase enzyme, which is used to make a DNA copy of the LINE RNA after it has been transcribed from the DNA template. The second ORF encodes an endonuclease enzyme, which creates a break in the target DNA molecule at the site of insertion. The LINE RNA and its complementary DNA (cDNA) copy are then integrated into the target DNA at this break, resulting in the insertion of a new copy of the LINE element.
LINEs can have both positive and negative effects on the genomes they inhabit. On one hand, they can contribute to genomic diversity and evolution by introducing new genetic material and creating genetic variation. On the other hand, they can also cause mutations and genomic instability when they insert into or near genes, potentially disrupting their function or leading to aberrant gene expression. As a result, LINEs are carefully regulated and controlled in the cell to prevent excessive genomic disruption.
Short Interspersed Nucleotide Elements (SINEs) are a type of transposable element in the genome. They are short sequences of DNA, typically around 100-300 base pairs in length, that are interspersed throughout the non-coding regions of the genome. SINEs are derived from small RNA genes, such as tRNAs and 7SL RNA, and are copied and inserted into new locations in the genome through a process called retrotransposition.
SINEs are usually non-coding and do not contain any known functional elements, but they can have regulatory effects on gene expression by affecting chromatin structure and transcription factor binding. They can also contribute to genetic diversity and evolution by creating new mutations and genomic rearrangements. However, the insertion of SINEs into genes or regulatory regions can also cause genetic diseases and cancer.
SINEs are one of the most abundant types of transposable elements in mammalian genomes, accounting for a significant fraction of the non-coding DNA. They are particularly enriched in the brain, suggesting a possible role in neural function and evolution.
DNA transposable elements, also known as transposons or jumping genes, are mobile genetic elements that can change their position within a genome. They are composed of DNA sequences that include genes encoding the enzymes required for their own movement (transposase) and regulatory elements. When activated, the transposase recognizes specific sequences at the ends of the element and catalyzes the excision and reintegration of the transposable element into a new location in the genome. This process can lead to genetic variation, as the insertion of a transposable element can disrupt the function of nearby genes or create new combinations of gene regulatory elements. Transposable elements are widespread in both prokaryotic and eukaryotic genomes and are thought to play a significant role in genome evolution.
A human genome is the complete set of genetic information contained within the 23 pairs of chromosomes found in the nucleus of most human cells. It includes all of the genes, which are segments of DNA that contain the instructions for making proteins, as well as non-coding regions of DNA that regulate gene expression and provide structural support to the chromosomes.
The human genome contains approximately 3 billion base pairs of DNA and is estimated to contain around 20,000-25,000 protein-coding genes. The sequencing of the human genome was completed in 2003 as part of the Human Genome Project, which has had a profound impact on our understanding of human biology, disease, and evolution.
A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.
Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.
In a medical or scientific context, "Primates" is a biological order that includes various species of mammals, such as humans, apes, monkeys, and prosimians (like lemurs and lorises). This group is characterized by several distinct features, including:
1. A forward-facing eye position, which provides stereoscopic vision and depth perception.
2. Nails instead of claws on most digits, except for the big toe in some species.
3. A rotating shoulder joint that allows for a wide range of motion in the arms.
4. A complex brain with a well-developed cortex, which is associated with higher cognitive functions like problem-solving and learning.
5. Social structures and behaviors, such as living in groups and exhibiting various forms of communication.
Understanding primates is essential for medical and biological research since many human traits, diseases, and behaviors have their origins within this group.
Retroelements are a type of mobile genetic element that can move within a host genome by reverse transcription of an RNA intermediate. They are called "retro" because they replicate through a retrotransposition process, which involves the reverse transcription of their RNA into DNA, and then integration of the resulting cDNA into a new location in the genome.
Retroelements are typically divided into two main categories: long terminal repeat (LTR) retrotransposons and non-LTR retrotransposons. LTR retrotransposons have direct repeats of several hundred base pairs at their ends, similar to retroviruses, while non-LTR retrotransposons lack these repeats.
Retroelements are widespread in eukaryotic genomes and can make up a significant fraction of the DNA content. They are thought to play important roles in genome evolution, including the creation of new genes and the regulation of gene expression. However, they can also cause genetic instability and disease when they insert into or near functional genes.
Strepsirhini is a term used in primatology and physical anthropology to refer to a parvorder of primates that includes lemurs, lorises, and galagos (bushbabies). This group is characterized by several features, including a wet nose, a grooming claw on the second digit of the hind foot, and a toothcomb - a set of lower incisors and canines specialized for grooming.
The term Strepsirhini comes from the Greek words "streptos" meaning twisted and "rhinos" meaning nose, referring to the wet, rhinarium (naked, moist snout) found in these primates. This is one of the two major divisions within the infraorder Lemuriformes, the other being Haplorhini, which includes tarsiers, monkeys, apes, and humans.
Sequence homology in nucleic acids refers to the similarity or identity between the nucleotide sequences of two or more DNA or RNA molecules. It is often used as a measure of biological relationship between genes, organisms, or populations. High sequence homology suggests a recent common ancestry or functional constraint, while low sequence homology may indicate a more distant relationship or different functions.
Nucleic acid sequence homology can be determined by various methods such as pairwise alignment, multiple sequence alignment, and statistical analysis. The degree of homology is typically expressed as a percentage of identical or similar nucleotides in a given window of comparison.
It's important to note that the interpretation of sequence homology depends on the biological context and the evolutionary distance between the sequences compared. Therefore, functional and experimental validation is often necessary to confirm the significance of sequence homology.
Exons are the coding regions of DNA that remain in the mature, processed mRNA after the removal of non-coding intronic sequences during RNA splicing. These exons contain the information necessary to encode proteins, as they specify the sequence of amino acids within a polypeptide chain. The arrangement and order of exons can vary between different genes and even between different versions of the same gene (alternative splicing), allowing for the generation of multiple protein isoforms from a single gene. This complexity in exon structure and usage significantly contributes to the diversity and functionality of the proteome.
The "3' flanking region" in molecular biology refers to the DNA sequence that is located immediately downstream (towards the 3' end) of a gene. This region does not code for the protein or functional RNA that the gene produces, but it can contain regulatory elements such as enhancers and silencers that influence the transcription of the gene. The 3' flanking region typically contains the polyadenylation signal, which is necessary for the addition of a string of adenine nucleotides (the poly(A) tail) to the messenger RNA (mRNA) molecule during processing. This modification helps protect the mRNA from degradation and facilitates its transport out of the nucleus and translation into protein.
It is important to note that the "3'" in 3' flanking region refers to the orientation of the DNA sequence relative to the coding (or transcribed) strand, which is the strand that contains the gene sequence and is used as a template for transcription. In this context, the 3' end of the coding strand corresponds to the 5' end of the mRNA molecule after transcription.
Hominidae, also known as the "great apes," is a family of primates that includes humans (Homo sapiens), orangutans (Pongo pygmaeus), gorillas (Gorilla gorilla and Gorilla beringei), bonobos (Pan paniscus), and chimpanzees (Pan troglodytes). This family is characterized by their upright walking ability, although not all members exhibit this trait. Hominidae species are known for their high intelligence, complex social structures, and expressive facial features. They share a common ancestor with the Old World monkeys, and fossil records suggest that this split occurred around 25 million years ago.
"Response elements" is a term used in molecular biology, particularly in the study of gene regulation. Response elements are specific DNA sequences that can bind to transcription factors, which are proteins that regulate gene expression. When a transcription factor binds to a response element, it can either activate or repress the transcription of the nearby gene.
Response elements are often found in the promoter region of genes and are typically short, conserved sequences that can be recognized by specific transcription factors. The binding of a transcription factor to a response element can lead to changes in chromatin structure, recruitment of co-activators or co-repressors, and ultimately, the regulation of gene expression.
Response elements are important for many biological processes, including development, differentiation, and response to environmental stimuli such as hormones, growth factors, and stress. The specificity of transcription factor binding to response elements allows for precise control of gene expression in response to changing conditions within the cell or organism.
Cercopithecidae is a family of Old World primates, which includes monkeys such as baboons, macaques, and langurs. These primates are characterized by their adaptations for arboreal or terrestrial living, and they have complex social structures. The family Cercopithecidae is divided into two subfamilies: Cercopithecinae (guenons, macaques, and langurs) and Colobinae (leaf monkeys and colobus monkeys). These primates are found in Africa and Asia, and they play important ecological roles in their environments.
Introns are non-coding sequences of DNA that are present within the genes of eukaryotic organisms, including plants, animals, and humans. Introns are removed during the process of RNA splicing, in which the initial RNA transcript is cut and reconnected to form a mature, functional RNA molecule.
After the intron sequences are removed, the remaining coding sequences, known as exons, are joined together to create a continuous stretch of genetic information that can be translated into a protein or used to produce non-coding RNAs with specific functions. The removal of introns allows for greater flexibility in gene expression and regulation, enabling the generation of multiple proteins from a single gene through alternative splicing.
In summary, introns are non-coding DNA sequences within genes that are removed during RNA processing to create functional RNA molecules or proteins.
RNA editing is a process that alters the sequence of a transcribed RNA molecule after it has been synthesized from DNA, but before it is translated into protein. This can result in changes to the amino acid sequence of the resulting protein or to the regulation of gene expression. The most common type of RNA editing in mammals is the hydrolytic deamination of adenosine (A) to inosine (I), catalyzed by a family of enzymes called adenosine deaminases acting on RNA (ADARs). Inosine is recognized as guanosine (G) by the translation machinery, leading to A-to-G changes in the RNA sequence. Other types of RNA editing include cytidine (C) to uridine (U) deamination and insertion/deletion of nucleotides. RNA editing is a crucial mechanism for generating diversity in gene expression and has been implicated in various biological processes, including development, differentiation, and disease.
Promoter regions in genetics refer to specific DNA sequences located near the transcription start site of a gene. They serve as binding sites for RNA polymerase and various transcription factors that regulate the initiation of gene transcription. These regulatory elements help control the rate of transcription and, therefore, the level of gene expression. Promoter regions can be composed of different types of sequences, such as the TATA box and CAAT box, and their organization and composition can vary between different genes and species.
"Pan troglodytes" is the scientific name for a species of great apes known as the Common Chimpanzee. They are native to tropical rainforests in Western and Central Africa. Common Chimpanzees are our closest living relatives, sharing about 98.6% of our DNA. They are highly intelligent and social animals, capable of using tools, exhibiting complex behaviors, and displaying a range of emotions.
Here is a medical definition for 'Pan troglodytes':
The scientific name for the Common Chimpanzee species (genus Pan), a highly intelligent and social great ape native to tropical rainforests in Western and Central Africa. They are our closest living relatives, sharing approximately 98.6% of our DNA. Known for their complex behaviors, tool use, and emotional expression, Common Chimpanzees have been extensively studied in the fields of anthropology, psychology, and primatology to better understand human evolution and behavior.
Genetic enhancer elements are DNA sequences that increase the transcription of specific genes. They work by binding to regulatory proteins called transcription factors, which in turn recruit RNA polymerase II, the enzyme responsible for transcribing DNA into messenger RNA (mRNA). This results in the activation of gene transcription and increased production of the protein encoded by that gene.
Enhancer elements can be located upstream, downstream, or even within introns of the genes they regulate, and they can act over long distances along the DNA molecule. They are an important mechanism for controlling gene expression in a tissue-specific and developmental stage-specific manner, allowing for the precise regulation of gene activity during embryonic development and throughout adult life.
It's worth noting that genetic enhancer elements are often referred to simply as "enhancers," and they are distinct from other types of regulatory DNA sequences such as promoters, silencers, and insulators.
Molecular evolution is the process of change in the DNA sequence or protein structure over time, driven by mechanisms such as mutation, genetic drift, gene flow, and natural selection. It refers to the evolutionary study of changes in DNA, RNA, and proteins, and how these changes accumulate and lead to new species and diversity of life. Molecular evolution can be used to understand the history and relationships among different organisms, as well as the functional consequences of genetic changes.
Genetic transcription is the process by which the information in a strand of DNA is used to create a complementary RNA molecule. This process is the first step in gene expression, where the genetic code in DNA is converted into a form that can be used to produce proteins or functional RNAs.
During transcription, an enzyme called RNA polymerase binds to the DNA template strand and reads the sequence of nucleotide bases. As it moves along the template, it adds complementary RNA nucleotides to the growing RNA chain, creating a single-stranded RNA molecule that is complementary to the DNA template strand. Once transcription is complete, the RNA molecule may undergo further processing before it can be translated into protein or perform its functional role in the cell.
Transcription can be either "constitutive" or "regulated." Constitutive transcription occurs at a relatively constant rate and produces essential proteins that are required for basic cellular functions. Regulated transcription, on the other hand, is subject to control by various intracellular and extracellular signals, allowing cells to respond to changing environmental conditions or developmental cues.
Deoxyribonucleic acid (DNA) is the genetic material present in the cells of organisms where it is responsible for the storage and transmission of hereditary information. DNA is a long molecule that consists of two strands coiled together to form a double helix. Each strand is made up of a series of four nucleotide bases - adenine (A), guanine (G), cytosine (C), and thymine (T) - that are linked together by phosphate and sugar groups. The sequence of these bases along the length of the molecule encodes genetic information, with A always pairing with T and C always pairing with G. This base-pairing allows for the replication and transcription of DNA, which are essential processes in the functioning and reproduction of all living organisms.
RNA Polymerase III is a type of enzyme that carries out the transcription of DNA into RNA, specifically functioning in the synthesis of small, stable RNAs. These RNAs include 5S rRNA, transfer RNAs (tRNAs), and other small nuclear RNAs (snRNAs). The enzyme recognizes specific promoter sequences in DNA and catalyzes the formation of phosphodiester bonds between ribonucleotides to create a complementary RNA strand. RNA Polymerase III is essential for protein synthesis and cell survival, and its activity is tightly regulated within the cell.
Insertional mutagenesis is a process of introducing new genetic material into an organism's genome at a specific location, which can result in a change or disruption of the function of the gene at that site. This technique is often used in molecular biology research to study gene function and regulation. The introduction of the foreign DNA is typically accomplished through the use of mobile genetic elements, such as transposons or viruses, which are capable of inserting themselves into the genome.
The insertion of the new genetic material can lead to a loss or gain of function in the affected gene, resulting in a mutation. This type of mutagenesis is called "insertional" because the mutation is caused by the insertion of foreign DNA into the genome. The effects of insertional mutagenesis can range from subtle changes in gene expression to the complete inactivation of a gene.
This technique has been widely used in genetic research, including the study of developmental biology, cancer, and genetic diseases. It is also used in the development of genetically modified organisms (GMOs) for agricultural and industrial applications.
Neurofibromatosis 1 (NF1) is a genetic disorder caused by mutations in the NF1 gene, which is located on chromosome 17 and encodes the protein neurofibromin. Neurofibromin is a tumor suppressor protein that regulates cell growth and differentiation.
The NF1 gene mutation leads to the development of benign (non-cancerous) tumors on nerves and skin, called neurofibromas, as well as other clinical features such as café-au-lait spots (light brown patches on the skin), freckling in the axillary or inguinal regions, Lisch nodules (harmless growths on the iris of the eye), and skeletal abnormalities.
Neurofibromatosis 1 is an autosomal dominant disorder, which means that a person has a 50% chance of inheriting the mutated gene from an affected parent. However, up to 50% of cases result from new mutations in the NF1 gene and occur in people with no family history of the condition.
The clinical manifestations of Neurofibromatosis 1 can vary widely among individuals, even within the same family. The diagnosis is typically made based on clinical criteria established by the National Institutes of Health (NIH). Treatment is generally focused on managing symptoms and addressing complications as they arise, although surgery may be necessary to remove large or symptomatic tumors.
"Gorilla gorilla" is the scientific name for the Western Gorilla, a subspecies of the Gorilla genus. Western Gorillas are divided into two subspecies: the Western Lowland Gorilla (Gorilla gorilla gorilla) and the Cross River Gorilla (Gorilla gorilla diehli). Western Gorillas are native to the forests of central Africa, with Western Lowland Gorillas found in countries such as Gabon, Cameroon, Congo, and Equatorial Guinea, and Cross River Gorillas having a more restricted range along the border region of Nigeria and Cameroon.
Western Lowland Gorillas are the most numerous and widespread of all gorilla subspecies, but they still face significant threats from habitat loss, poaching, and disease. Cross River Gorillas are one of the world's 25 most endangered primates, with only a few hundred individuals remaining in the wild. Conservation efforts are underway to protect both subspecies and their habitats, including anti-poaching patrols, habitat restoration, and community education programs.
Regulatory sequences in nucleic acid refer to specific DNA or RNA segments that control the spatial and temporal expression of genes without encoding proteins. They are crucial for the proper functioning of cells as they regulate various cellular processes such as transcription, translation, mRNA stability, and localization. Regulatory sequences can be found in both coding and non-coding regions of DNA or RNA.
Some common types of regulatory sequences in nucleic acid include:
1. Promoters: DNA sequences typically located upstream of the gene that provide a binding site for RNA polymerase and transcription factors to initiate transcription.
2. Enhancers: DNA sequences, often located at a distance from the gene, that enhance transcription by binding to specific transcription factors and increasing the recruitment of RNA polymerase.
3. Silencers: DNA sequences that repress transcription by binding to specific proteins that inhibit the recruitment of RNA polymerase or promote chromatin compaction.
4. Intron splice sites: Specific nucleotide sequences within introns (non-coding regions) that mark the boundaries between exons (coding regions) and are essential for correct splicing of pre-mRNA.
5. 5' untranslated regions (UTRs): Regions located at the 5' end of an mRNA molecule that contain regulatory elements affecting translation efficiency, stability, and localization.
6. 3' untranslated regions (UTRs): Regions located at the 3' end of an mRNA molecule that contain regulatory elements influencing translation termination, stability, and localization.
7. miRNA target sites: Specific sequences in mRNAs that bind to microRNAs (miRNAs) leading to translational repression or degradation of the target mRNA.
Gene conversion is a process in genetics that involves the non-reciprocal transfer of genetic information from one region of a chromosome to a corresponding region on its homologous chromosome. This process results in a segment of DNA on one chromosome being replaced with a corresponding segment from the other chromosome, leading to a change in the genetic sequence and potentially the phenotype.
Gene conversion can occur during meiosis, as a result of homologous recombination between two similar or identical sequences. It is a natural process that helps maintain genetic diversity within populations and can also play a role in the evolution of genes and genomes. However, gene conversion can also lead to genetic disorders if it occurs in an important gene and results in a deleterious mutation.
Inosine is not a medical condition but a naturally occurring compound called a nucleoside, which is formed from the combination of hypoxanthine and ribose. It is an intermediate in the metabolic pathways of purine nucleotides, which are essential components of DNA and RNA. Inosine has been studied for its potential therapeutic benefits in various medical conditions, including neurodegenerative disorders, cardiovascular diseases, and cancer. However, more research is needed to fully understand its mechanisms and clinical applications.
In genetics, sequence alignment is the process of arranging two or more DNA, RNA, or protein sequences to identify regions of similarity or homology between them. This is often done using computational methods to compare the nucleotide or amino acid sequences and identify matching patterns, which can provide insight into evolutionary relationships, functional domains, or potential genetic disorders. The alignment process typically involves adjusting gaps and mismatches in the sequences to maximize the similarity between them, resulting in an aligned sequence that can be visually represented and analyzed.
'Gene expression regulation' refers to the processes that control whether, when, and where a particular gene is expressed, meaning the production of a specific protein or functional RNA encoded by that gene. This complex mechanism can be influenced by various factors such as transcription factors, chromatin remodeling, DNA methylation, non-coding RNAs, and post-transcriptional modifications, among others. Proper regulation of gene expression is crucial for normal cellular function, development, and maintaining homeostasis in living organisms. Dysregulation of gene expression can lead to various diseases, including cancer and genetic disorders.
Polymerase Chain Reaction (PCR) is a laboratory technique used to amplify specific regions of DNA. It enables the production of thousands to millions of copies of a particular DNA sequence in a rapid and efficient manner, making it an essential tool in various fields such as molecular biology, medical diagnostics, forensic science, and research.
The PCR process involves repeated cycles of heating and cooling to separate the DNA strands, allow primers (short sequences of single-stranded DNA) to attach to the target regions, and extend these primers using an enzyme called Taq polymerase, resulting in the exponential amplification of the desired DNA segment.
In a medical context, PCR is often used for detecting and quantifying specific pathogens (viruses, bacteria, fungi, or parasites) in clinical samples, identifying genetic mutations or polymorphisms associated with diseases, monitoring disease progression, and evaluating treatment effectiveness.
DNA Sequence Analysis is the systematic determination of the order of nucleotides in a DNA molecule. It is a critical component of modern molecular biology, genetics, and genetic engineering. The process involves determining the exact order of the four nucleotide bases - adenine (A), guanine (G), cytosine (C), and thymine (T) - in a DNA molecule or fragment. This information is used in various applications such as identifying gene mutations, studying evolutionary relationships, developing molecular markers for breeding, and diagnosing genetic diseases.
The process of DNA Sequence Analysis typically involves several steps, including DNA extraction, PCR amplification (if necessary), purification, sequencing reaction, and electrophoresis. The resulting data is then analyzed using specialized software to determine the exact sequence of nucleotides.
In recent years, high-throughput DNA sequencing technologies have revolutionized the field of genomics, enabling the rapid and cost-effective sequencing of entire genomes. This has led to an explosion of genomic data and new insights into the genetic basis of many diseases and traits.
Chromosome breakage is a medical term that refers to the breaking or fragmentation of chromosomes, which are thread-like structures located in the nucleus of cells that carry genetic information. Normally, chromosomes are tightly coiled and consist of two strands called chromatids, joined together at a central point called the centromere.
Chromosome breakage can occur spontaneously or be caused by environmental factors such as radiation or chemicals, or inherited genetic disorders. When a chromosome breaks, it can result in various genetic abnormalities, depending on the location and severity of the break.
For instance, if the break occurs in a region containing important genes, it can lead to the loss or alteration of those genes, causing genetic diseases or birth defects. In some cases, the broken ends of the chromosome may rejoin incorrectly, leading to chromosomal rearrangements such as translocations, deletions, or inversions. These rearrangements can also result in genetic disorders or cancer.
Chromosome breakage is commonly observed in individuals with certain inherited genetic conditions, such as Bloom syndrome, Fanconi anemia, and ataxia-telangiectasia, which are characterized by an increased susceptibility to chromosome breakage due to defects in DNA repair mechanisms.
A consensus sequence in genetics refers to the most common nucleotide (DNA or RNA) or amino acid at each position in a multiple sequence alignment. It is derived by comparing and analyzing several sequences of the same gene or protein from different individuals or organisms. The consensus sequence provides a general pattern or motif that is shared among these sequences and can be useful in identifying functional regions, conserved domains, or evolutionary relationships. However, it's important to note that not every sequence will exactly match the consensus sequence, as variations can occur naturally due to mutations or genetic differences among individuals.
Phylogeny is the evolutionary history and relationship among biological entities, such as species or genes, based on their shared characteristics. In other words, it refers to the branching pattern of evolution that shows how various organisms have descended from a common ancestor over time. Phylogenetic analysis involves constructing a tree-like diagram called a phylogenetic tree, which depicts the inferred evolutionary relationships among organisms or genes based on molecular sequence data or other types of characters. This information is crucial for understanding the diversity and distribution of life on Earth, as well as for studying the emergence and spread of diseases.
CpG islands are defined as short stretches of DNA that are characterized by a higher than expected frequency of CpG dinucleotides. A dinucleotide is a pair of adjacent nucleotides, and in the case of CpG, C represents cytosine and G represents guanine. These islands are typically found in the promoter regions of genes, where they play important roles in regulating gene expression.
Under normal circumstances, the cytosine residue in a CpG dinucleotide is often methylated, meaning that a methyl group (-CH3) is added to the cytosine base. However, in CpG islands, methylation is usually avoided, and these regions tend to be unmethylated. This has important implications for gene expression because methylation of CpG dinucleotides in promoter regions can lead to the silencing of genes.
CpG islands are also often targets for transcription factors, which bind to specific DNA sequences and help regulate gene expression. The unmethylated state of CpG islands is thought to be important for maintaining the accessibility of these regions to transcription factors and other regulatory proteins.
Abnormal methylation patterns in CpG islands have been associated with various diseases, including cancer. In many cancers, CpG islands become aberrantly methylated, leading to the silencing of tumor suppressor genes and contributing to the development and progression of the disease.
HeLa cells are a type of immortalized cell line used in scientific research. They are derived from a cancer that developed in the cervical tissue of Henrietta Lacks, an African-American woman, in 1951. After her death, cells taken from her tumor were found to be capable of continuous division and growth in a laboratory setting, making them an invaluable resource for medical research.
HeLa cells have been used in a wide range of scientific studies, including research on cancer, viruses, genetics, and drug development. They were the first human cell line to be successfully cloned and are able to grow rapidly in culture, doubling their population every 20-24 hours. This has made them an essential tool for many areas of biomedical research.
It is important to note that while HeLa cells have been instrumental in numerous scientific breakthroughs, the story of their origin raises ethical questions about informed consent and the use of human tissue in research.
Genetic variation refers to the differences in DNA sequences among individuals and populations. These variations can result from mutations, genetic recombination, or gene flow between populations. Genetic variation is essential for evolution by providing the raw material upon which natural selection acts. It can occur within a single gene, between different genes, or at larger scales, such as differences in the number of chromosomes or entire sets of chromosomes. The study of genetic variation is crucial in understanding the genetic basis of diseases and traits, as well as the evolutionary history and relationships among species.
Molecular cloning is a laboratory technique used to create multiple copies of a specific DNA sequence. This process involves several steps:
1. Isolation: The first step in molecular cloning is to isolate the DNA sequence of interest from the rest of the genomic DNA. This can be done using various methods such as PCR (polymerase chain reaction), restriction enzymes, or hybridization.
2. Vector construction: Once the DNA sequence of interest has been isolated, it must be inserted into a vector, which is a small circular DNA molecule that can replicate independently in a host cell. Common vectors used in molecular cloning include plasmids and phages.
3. Transformation: The constructed vector is then introduced into a host cell, usually a bacterial or yeast cell, through a process called transformation. This can be done using various methods such as electroporation or chemical transformation.
4. Selection: After transformation, the host cells are grown in selective media that allow only those cells containing the vector to grow. This ensures that the DNA sequence of interest has been successfully cloned into the vector.
5. Amplification: Once the host cells have been selected, they can be grown in large quantities to amplify the number of copies of the cloned DNA sequence.
Molecular cloning is a powerful tool in molecular biology and has numerous applications, including the production of recombinant proteins, gene therapy, functional analysis of genes, and genetic engineering.
Terminal repeat sequences (TRS) are repetitive DNA sequences that are located at the termini or ends of chromosomes, plasmids, and viral genomes. They play a significant role in various biological processes such as genome replication, packaging, and integration. In eukaryotic cells, telomeres are the most well-known TRS, which protect the chromosome ends from degradation, fusion, and other forms of DNA damage.
Telomeres consist of repetitive DNA sequences (5'-TTAGGG-3' in vertebrates) that are several kilobases long, associated with a set of shelterin proteins that protect them from being recognized as double-strand breaks by the DNA repair machinery. With each cell division, telomeres progressively shorten due to the end replication problem, which can ultimately lead to cellular senescence or apoptosis.
In contrast, prokaryotic TRS are often found at the ends of plasmids and phages and are involved in DNA replication, packaging, and integration into host genomes. For example, the attP and attB sites in bacteriophage lambda are TRS that facilitate site-specific recombination during integration and excision from the host genome.
Overall, terminal repeat sequences are essential for maintaining genome stability and integrity in various organisms, and their dysfunction can lead to genomic instability, disease, and aging.
Messenger RNA (mRNA) is a type of RNA (ribonucleic acid) that carries genetic information copied from DNA in the form of a series of three-base code "words," each of which specifies a particular amino acid. This information is used by the cell's machinery to construct proteins, a process known as translation. After being transcribed from DNA, mRNA travels out of the nucleus to the ribosomes in the cytoplasm where protein synthesis occurs. Once the protein has been synthesized, the mRNA may be degraded and recycled. Post-transcriptional modifications can also occur to mRNA, such as alternative splicing and addition of a 5' cap and a poly(A) tail, which can affect its stability, localization, and translation efficiency.
Restriction mapping is a technique used in molecular biology to identify the location and arrangement of specific restriction endonuclease recognition sites within a DNA molecule. Restriction endonucleases are enzymes that cut double-stranded DNA at specific sequences, producing fragments of various lengths. By digesting the DNA with different combinations of these enzymes and analyzing the resulting fragment sizes through techniques such as agarose gel electrophoresis, researchers can generate a restriction map - a visual representation of the locations and distances between recognition sites on the DNA molecule. This information is crucial for various applications, including cloning, genome analysis, and genetic engineering.
Chromosome mapping, also known as physical mapping, is the process of determining the location and order of specific genes or genetic markers on a chromosome. This is typically done by using various laboratory techniques to identify landmarks along the chromosome, such as restriction enzyme cutting sites or patterns of DNA sequence repeats. The resulting map provides important information about the organization and structure of the genome, and can be used for a variety of purposes, including identifying the location of genes associated with genetic diseases, studying evolutionary relationships between organisms, and developing genetic markers for use in breeding or forensic applications.
In the context of medical and biological sciences, a "binding site" refers to a specific location on a protein, molecule, or cell where another molecule can attach or bind. This binding interaction can lead to various functional changes in the original protein or molecule. The other molecule that binds to the binding site is often referred to as a ligand, which can be a small molecule, ion, or even another protein.
The binding between a ligand and its target binding site can be specific and selective, meaning that only certain ligands can bind to particular binding sites with high affinity. This specificity plays a crucial role in various biological processes, such as signal transduction, enzyme catalysis, or drug action.
In the case of drug development, understanding the location and properties of binding sites on target proteins is essential for designing drugs that can selectively bind to these sites and modulate protein function. This knowledge can help create more effective and safer therapeutic options for various diseases.
"Gene rearrangement" is a process that involves the alteration of the order, orientation, or copy number of genes or gene segments within an organism's genome. This natural mechanism plays a crucial role in generating diversity and specificity in the immune system, particularly in vertebrates.
In the context of the immune system, gene rearrangement occurs during the development of B-cells and T-cells, which are responsible for adaptive immunity. The process involves breaking and rejoining DNA segments that encode antigen recognition sites, resulting in a unique combination of gene segments and creating a vast array of possible antigen receptors.
There are two main types of gene rearrangement:
1. V(D)J recombination: This process occurs in both B-cells and T-cells. It involves the recombination of variable (V), diversity (D), and joining (J) gene segments to form a functional antigen receptor gene. In humans, there are multiple copies of V, D, and J segments for each antigen receptor gene, allowing for a vast number of possible combinations.
2. Class switch recombination: This process occurs only in mature B-cells after antigen exposure. It involves the replacement of the constant (C) region of the immunoglobulin heavy chain gene with another C region, resulting in the production of different isotypes of antibodies (IgG, IgA, or IgE) that have distinct effector functions while maintaining the same antigen specificity.
These processes contribute to the generation of a diverse repertoire of antigen receptors, allowing the immune system to recognize and respond effectively to a wide range of pathogens.
Computational biology is a branch of biology that uses mathematical and computational methods to study biological data, models, and processes. It involves the development and application of algorithms, statistical models, and computational approaches to analyze and interpret large-scale molecular and phenotypic data from genomics, transcriptomics, proteomics, metabolomics, and other high-throughput technologies. The goal is to gain insights into biological systems and processes, develop predictive models, and inform experimental design and hypothesis testing in the life sciences. Computational biology encompasses a wide range of disciplines, including bioinformatics, systems biology, computational genomics, network biology, and mathematical modeling of biological systems.
Trace elements are essential minerals that the body needs in very small or tiny amounts, usually less than 100 milligrams per day, for various biological processes. These include elements like iron, zinc, copper, manganese, fluoride, selenium, and iodine. They are vital for maintaining good health and proper functioning of the human body, but they are required in such minute quantities that even a slight excess or deficiency can lead to significant health issues.
Alu element
Retrotransposon marker
Short interspersed nuclear element
ARMH3
Mutation
Pseudogene
Jerzy Jurka
Retrotransposon
Transposable element
Barbary macaque
HSD17B1
Circular RNA
Exon shuffling
A. Thomas Look
Hp53int1
Azaras's capuchin
Genome
Feng's classification
BC200 lncRNA
Evolution of biological complexity
CpG site
T-box transcription factor T
Genome survey sequence
Labor federation competition in the United States
Kronos (computer)
Repeated sequence (DNA)
Signal recognition particle RNA
Non-coding DNA
Proopiomelanocortin
Paisa (region)
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Sequences11
- 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)
- Called Alu elements, these relatively short (approximately 300 Watson-Crick base pairs), repetitive non-coding sequences of DNA have been implicated in the rapid evolution of humans and non-human primate species. (technologynetworks.com)
- The machinery 'gets confused' by the repetitive Alu sequences and responds in a way that leads to either duplication or deletion of the sequence between the Alu elements, and this can lead to disease," said Shaw, who is a statistician, a computational scientist and an associate professor of molecular and human genetics at Baylor College of Medicine, as well as senior director of bioinformatics at Baylor Genetics. (technologynetworks.com)
- There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. (lookformedical.com)
- Due to the staggered DNA cuts of the genome by the L1-derived endonuclease during TPRT, Alu insertions are flanked by short sequences of duplicated host DNA called target site duplications (TSDs), which can be used to identify the insertion event. (biomedcentral.com)
- In the current report, a systematic approach is implemented to catalogue regulatory elements within HERVs, as a roadmap to potential functions of HERV sequences in gene networks. (mdpi.com)
- I analyzed the presence of HERV sequences on consensus cis-regulatory elements (cCREs) from ENCODE data. (mdpi.com)
- Alu elements are nonfunctional DNA sequences that have the same location in many species. (reasons.org)
- Evolution can't readily explain how the sequences came to be in the same places because the Alu elements and B1 elements arose supposedly after the lines diverged. (reasons.org)
- As an example, Kimmel and Mathaes [ 4 ] modeled the Alu sequence data using an infinite-allele simple branching process with linear-fractional offspring distribution, and the goodness of fit testing suggested that Alu sequences do not evolve neutrally and might be under selection. (hindawi.com)
- Transposable elements (TEs) are mobile genetic sequences that comprise around 50% of our genomic DNA. (lu.se)
Gurkan Building Elements2
- We are here to create the best environments at your home or workplace, just like you need, just like you desire.Gurkan Building Elements, has gained a well-deserved trust of our customers for the last 15 years of our service. (aluarc.com)
- AluArc, a trademark of Gurkan Building Elements Inc, has introduced movable glass systems to meet the diversified requirements of customers for space enclosures, partitions and weather protection. (aluarc.com)
Provided the definitive link b1
- 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)
Insertions9
- Alu insertions have been implicated in several inherited human diseases and in various forms of cancer. (wikipedia.org)
- As part of the Baboon Genome Analysis Consortium, we assembled an Alu insertion polymorphism database of nearly 500 Papio -lineage specific insertions representing all six species and performed population structure and phylogenetic analyses. (lsu.edu)
- In this study, we have selected a subset of 48 species indicative Alu insertions and demonstrate their utility as genetic systems for the identification of baboon species within Papio . (lsu.edu)
- With relatively few young polymorphic insertions, the genomic landscape of the orangutan seemed like the ideal place to search for a driver, or source element, of Alu retrotransposition. (biomedcentral.com)
- Although the autonomous features of L1 are straightforward, the identification of Alu element insertions that retain the ability to propagate copies of themselves has remained somewhat elusive. (biomedcentral.com)
- This is primarily because Alu elements do not contain coding sequence and the vast majority of insertions are highly similar to each other. (biomedcentral.com)
- Sequence analysis showed that these "young" Alu insertions represented gene conversion events of pre-existing ancient Alu elements or independent parallel insertions of older Alu elements in the same genomic region. (ojp.gov)
- The study suggests that the majority of Alu insertions in primate genomes are the products of unique evolutionary events. (ojp.gov)
- Approximately 30% of new STR mutations occur within Alu elements, which compose only 11% of the genome, but only 10% are found in LINE-1 insertions, which compose 17% of the genome. (biomedcentral.com)
Primate genomes4
- 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)
- Sequence analysis of the orangutan genome revealed that recent proliferative activity of Alu elements has been uncharacteristically quiescent in the Pongo (orangutan) lineage, compared with all previously studied primate genomes. (biomedcentral.com)
- PCR-based screening of over 500 Alu insertion loci resulted in the recovery of a few "young" Alu elements that also resided at orthologous positions in non-human primate genomes. (ojp.gov)
Genome10
- Alu elements are the most abundant transposable elements, containing over one million copies dispersed throughout the human genome. (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)
- Given the relevance of Alu elements in human genetic diseases as well as genome evolution, the researchers wanted to find a way to predict which genes are susceptible to Alu/Alu-mediated rearrangements. (technologynetworks.com)
- Elements that are transcribed into RNA, reverse-transcribed into DNA and then inserted into a new site in the genome. (lookformedical.com)
- In the orangutan genome, this insertion contains three orangutan-specific diagnostic mutations which are characteristic of the youngest polymorphic Alu subfamily, Alu Ye5b5_ Pongo . (biomedcentral.com)
- I started this article series by retelling an evolutionist's claim that the existence of Alu elements in the human genome is proof of evolution . (reasons.org)
- Soon after the mouse genome was first published, the scientists realized their data analysis indicated that the best predictor of B1 elements location in the mouse genome was the Alu elements location in the comparable region of the human genome. (reasons.org)
- Evolutionists conjecture that repetitive elements like Alu and B1 are placed randomly in the genome and then evolve new function based on where they are placed. (reasons.org)
- The level of gene conversion between Alu elements suggests that it has had a significant influence on the single nucleotide diversity within the genome. (ojp.gov)
- How many mobile elements, simple sequence repeats, or protein kinases are encoded in the genome? (cshlpress.com)
Genomes2
- The existence of that kind of element in our genomes points to an incredible level design. (reasons.org)
- Scientists have been aware of an "Alu-like" element in the genomes of other mammalian species for some time. (reasons.org)
Highly conserved1
- Exaptation of an ancient Alu short interspersed element provides a highly conserved vitamin D-mediated innate immune response in humans and primates. (oregonstate.edu)
Aluminium1
- The aim of this study was to quantify toxic metals lead, cadmium and trace elements zinc, copper, aluminium (Al) and Iron (Fe) levels in pregnant women, cord blood and meconium of new-born infants from industrial zones of Karachi, Pakistan. (who.int)
Sequence5
- 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). (lookformedical.com)
- 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. (lookformedical.com)
- The sequence of B1 is so similar to Alu that evolutionary scientists have concluded both elements derived from the same molecule (the signal recognition particle ) at different times in evolutionary history. (reasons.org)
- But, from the design perspective, if we need Alu elements in certain locations, mice (with whom we share a lot of common biology) will need a similar sequence in the same location. (reasons.org)
Polymorphic1
- This is the final report on the NIJ-sponsored "LINE Elements" project, whose stated goal was to "identify 'young' polymorphic Ta LINE elements and develop these elements as markers for forensic DNA profiling. (ojp.gov)
Signal recognit1
- The primate Alu (ALU ELEMENTS) and the rodent B1 SINEs are derived from 7SL RNA, the RNA component of the signal recognition particle. (lookformedical.com)
Restriction2
- An Alu element is a short stretch of DNA originally characterized by the action of the Arthrobacter luteus (Alu) restriction endonuclease. (wikipedia.org)
- Non-coding regions of DNA containing a restriction site for the enzyme Alu 1. (ojp.gov)
Subfamily3
- Later on, a sub-subfamily of AluS which included active Alu elements was given the separate name AluY. (wikipedia.org)
- We provide evidence for the evolution of a lineage-specific subfamily of this shared Alu insertion in orangutans and possibly the lineage leading to humans. (biomedcentral.com)
- 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)
Gene2
- To cause structural variations, pairs of elements (Alu/Alu) mediate genomic rearrangements that result in either gene copy number gains or losses, and these changes can have profound consequences for an individual's health. (technologynetworks.com)
- 2012). Alu elements mediate large SPG11 gene rearrangements: Further spatacsin mutations . (up.pt)
Repeats2
- Long terminal repeats (LTRs) similar to those from retroviruses are contained in retrotransposons and retrovirus-like elements. (lookformedical.com)
- Finally, there was a strong preference for integration into, or in close proximity to, Alu repeats, which were also enriched in local hotspots for integration. (nih.gov)
Mutations1
- In the Homininae lineage (human, chimpanzee and gorilla), this insertion has acquired three different mutations which are also found in a single human-specific Alu insertion. (biomedcentral.com)
Primates3
- 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)
- Are primates the only species in need of something like an Alu element? (reasons.org)
- Evolutionists have concluded that Alu elements in primates and B1 elements in mice arose after the two lineages separated from one another. (reasons.org)
Accumulate2
- Alu elements accumulate in a random manner and are a novel source of identical by descent variation with known ancestral states for inferring population genetic and phylogenetic relationships. (lsu.edu)
- Alu elements accumulate in an 'identical by descent' manner. (biomedcentral.com)
Rearrangement3
- For instance, the first Alu-mediated rearrangement was described 30 years ago in a patient with familial hypercholesterolemia or very high levels of cholesterol in the blood. (technologynetworks.com)
- Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements. (ox.ac.uk)
- 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)
Polymerase2
- Alu elements are retrotransposons and look like DNA copies made from RNA polymerase III-encoded RNAs. (wikipedia.org)
- The study concluded that multiplex analysis of these loci was not reproducible as a result of the large PCR (polymerase chain reaction) amplicons that contained a significant proportion (greater than 98 percent) of nearly identical genetic material (L1 element). (ojp.gov)
Genomic1
- The Alu elements we are talking about are thought to be completely inert, they are not actively producing proteins, but problems arise when the machinery that repairs broken DNA incorrectly replicates a genomic segment flanked by a pair of repetitive Alu elements. (technologynetworks.com)
Base pairs1
- 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)
Nucleotide1
- Methylation of Alu and long interspersed nucleotide elements (LINE-1) is a well-established measure of DNA methylation often used in epidemiologic studies. (cdc.gov)
Genes3
- 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)
- Transposition of this element into coding and regulatory regions of genes is responsible for many heritable diseases. (lookformedical.com)
Deletion2
- Alu/Alu-mediated rearrangements had resulted in the small deletion of the LDL receptor in this patient, rendering it unfit to capture LDL-cholesterol particles and remove them from the blood. (technologynetworks.com)
- Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy. (bvsalud.org)
Chromosomal2
Trace Elements4
- ABSTRACT Toxic metals and deficiency/excess of trace elements can have adverse effects on health. (who.int)
- Blood samples of pregnant women (n = 416), cord blood (n = 309) and meconium (n = 309) were analyzed quantitatively for metals and trace elements. (who.int)
- Meconium contained high levels of toxic heavy metals and trace elements compared to cord blood and maternal blood. (who.int)
- industrial areas are exposed to trace of trace elements. (who.int)
Encode1
- Alu elements do not encode for protein products. (wikipedia.org)
Genetic diseases2
- Scientists have estimated that Alu/Alu-associated copy number variants cause approximately 0.3 percent of human genetic diseases. (technologynetworks.com)
- Among other things, his lab and the findings from other labs pointed at Alu element-mediated variation as the cause of a significant portion of some pediatric genetic diseases. (technologynetworks.com)
Abundant1
- In concluding this series, I'd like to point out that, in addition to their abundant function, there are other reasons for viewing Alu elements as designed. (reasons.org)
Identification2
- This Alu- 48 panel should serve as a valuable tool during the maintenance of pedigree records in captive populations and assist in the forensic identification of fossils and potential hybrids in the wild. (lsu.edu)
- Here we report the identification of a nearly pristine insertion possessing all the known putative hallmarks of a retrotranspositionally competent Alu element. (biomedcentral.com)
Scientists1
- But consider that scientists have also recently discovered overlapping functionality in B1 and Alu elements. (reasons.org)
Methylation4
- Yet, few studies have examined the effects of host factors on LINE-1 and Alu methylation in children. (cdc.gov)
- We measured Alu and LINE-1 methylation by pyrosequencing bisulfite-treated DNA isolated from whole blood samples collected from newborns and nine-year old children (n=358). (cdc.gov)
- Higher prenatal DDT/E exposure was associated with lower Alu methylation at birth, particularly after adjusting for cell type composition (P=0.02 for o,p' -DDT). (cdc.gov)
- Our data suggest that repeat element methylation can be an informative marker of epigenetic differences by age and sex and that prenatal exposure to POPs may be linked to hypomethylation in fetal blood. (cdc.gov)
Variation1
- A large portion of human variation, including both variants associated and not associated with disease, is driven by small scale Alu/Alu-mediated events. (technologynetworks.com)
Structural1
- Years later, other similarly severe medical conditions were linked to Alu/Alu-mediated structural variations, such as spastic paraplegia 4 and Fanconi anemia. (technologynetworks.com)
Promoter2
- 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)
- These elements may be found in both promoter and enhancer regions. (lookformedical.com)
Mice2
- 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)
Human1
- Certainly, the cell has mechanisms for determining how each Alu element functions, but it's not something readily understood from a human perspective. (reasons.org)
Process1
- Alu elements prove that their DNA was "inherited" through the process of evolution. (reasons.org)
Ancient1
- This seemingly stealth-like amplification, ongoing at a very low rate over millions of years of evolution, suggests that this shared insertion may represent an ancient backseat driver of Alu element expansion. (biomedcentral.com)
Source2
- A 12DCV or a 24DCV source for a 300watt DC heating element? (allaboutcircuits.com)
- I would like to choose in between either a 12DCV or a 24DCV source to power up the 300watts DC heating element, which one is a better one in terms of safety, connection cable size, etc. (allaboutcircuits.com)
Species1
- Papio Baboon Species Indicative Alu Elements" by Mark Batzer, Jerilyn A. Walker et al. (lsu.edu)
Terms1
- In simple terms, B1 corresponds to half of an Alu element. (reasons.org)