Chromosomes
Chromosome Mapping
Chromosome Banding
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
X Chromosome
Chromosome Aberrations
Sex Chromosomes
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
Chromosomes, Human, Pair 1
Chromosomes, Human
Chromosomes, Bacterial
Chromosomes, Human, Pair 7
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 17
Chromosomes, Human, Pair 6
Chromosomes, Human, Pair 9
Chromosomes, Human, Pair 21
Chromosomes, Plant
Chromosomes, Fungal
Chromosomes, Human, 6-12 and X
Chromosomes, Human, Pair 2
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 22
Chromosomes, Human, Pair 13
Chromosomes, Mammalian
Chromosomes, Human, Pair 4
Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 19
Chromosomes, Human, Pair 8
Chromosomes, Human, Y
Chromosome Disorders
Chromosomes, Artificial, Bacterial
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 5
Chromosomes, Human, X
Chromosome Painting
A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.
Chromosomes, Human, 1-3
Chromosomes, Human, Pair 15
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 18
Chromosomes, Human, Pair 20
In Situ Hybridization, Fluorescence
Chromosomes, Human, 16-18
Chromosomes, Artificial, Yeast
Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.
Genetic Linkage
Chromosomes, Human, 13-15
Chromosome Breakage
Chromosomes, Human, 21-22 and Y
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.
Base Sequence
Genetic Markers
Chromosome Inversion
Chromosome Positioning
Chromosomes, Human, 4-5
X Chromosome Inactivation
Centromere
Meiosis
Translocation, Genetic
Hybrid Cells
Chromosomes, Human, 19-20
Aneuploidy
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
Metaphase
Mitosis
Recombination, Genetic
Mutation
Microsatellite Repeats
Lod Score
Pedigree
Crosses, Genetic
Cloning, Molecular
Phenotype
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).
Alleles
Amino Acid Sequence
Nucleic Acid Hybridization
Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)
Models, Genetic
Sequence Analysis, DNA
Nondisjunction, Genetic
Kinetochores
Chromosomes, Artificial, Human
Telomere
Blotting, Southern
Genotype
Genes
Chromosome Walking
A technique with which an unknown region of a chromosome can be explored. It is generally used to isolate a locus of interest for which no probe is available but that is known to be linked to a gene which has been identified and cloned. A fragment containing a known gene is selected and used as a probe to identify other overlapping fragments which contain the same gene. The nucleotide sequences of these fragments can then be characterized. This process continues for the length of the chromosome.
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.
Chromosomal Proteins, Non-Histone
Haplotypes
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).
Spindle Apparatus
Chromosomal Instability
Evolution, Molecular
Chromosome Fragility
DNA Probes
Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.
DNA, Satellite
Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.
Drosophila melanogaster
Diploidy
Plasmids
Heterozygote
Chromatids
Either of the two longitudinally adjacent threads formed when a eukaryotic chromosome replicates prior to mitosis. The chromatids are held together at the centromere. Sister chromatids are derived from the same chromosome. (Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Multigene Family
A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
DNA-Binding Proteins
Mosaicism
Polyploidy
Gene Deletion
Polymorphism, Genetic
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
Species Specificity
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
Sequence Homology, Nucleic Acid
Polytene Chromosomes
Escherichia coli
A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.
Nuclear Proteins
Gene Dosage
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
Prophase
Interphase
Cell Cycle Proteins
Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.
Saccharomyces cerevisiae
Loss of Heterozygosity
Karyotype
Cosmids
Cytogenetic Analysis
Chromatin
Cytogenetics
Transcription, Genetic
Genome, Human
Gene Rearrangement
Polymorphism, Restriction Fragment Length
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.
DNA Primers
Polymorphism, Single Nucleotide
Chromosome Fragile Sites
Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.)
Genetic Predisposition to Disease
Sequence Tagged Sites
Short tracts of DNA sequence that are used as landmarks in GENOME mapping. In most instances, 200 to 500 base pairs of sequence define a Sequence Tagged Site (STS) that is operationally unique in the human genome (i.e., can be specifically detected by the polymerase chain reaction in the presence of all other genomic sequences). The overwhelming advantage of STSs over mapping landmarks defined in other ways is that the means of testing for the presence of a particular STS can be completely described as information in a database.
Sequence Homology, Amino Acid
Spermatocytes
Monosomy
Sex Chromosome Disorders
Genes, Dominant
Genome
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.
Cell Nucleus
Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Azure Stains
Contig Mapping
DNA Restriction Enzymes
Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.
Philadelphia Chromosome
An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE).
Chromosome Breakpoints
Gene Duplication
Exons
Chromosomes, Archaeal
Haploidy
Genetic Loci
Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.
Hybridization, Genetic
Drosophila
Base Pairing
Gene Amplification
A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.
Genomic Imprinting
Sex Chromatin
Genes, Lethal
Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.
DNA, Complementary
Histones
Intellectual Disability
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Microtubules
Transcription Factors
Pachytene Stage
Sister Chromatid Exchange
An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME.
Chromosomes, Artificial
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.
Gene Library
Nucleic Acid Conformation
Introns
Quantitative Trait, Heritable
Triticum
Biological Evolution
Euchromatin
Genomic Library
11q23.1 and 11q25-qter YACs suppress tumour growth in vivo. (1/1929)
Frequent allelic deletion at chromosome 11q22-q23.1 has been described in breast cancer and a number of other malignancies, suggesting putative tumour suppressor gene(s) within the approximately 8 Mb deleted region. In addition, we recently described another locus, at the 11q25-qter region, frequently deleted in breast cancer, suggesting additional tumour suppressor gene(s) in this approximately 2 Mb deleted region. An 11q YAC contig was accessed and three YACs, one containing the candidate gene ATM at 11q23.1, and two contiguous YACs (overlapping for approximately 400-600 kb) overlying most of the 11q25 deleted region, were retrofitted with a G418 resistance marker and transfected into murine A9 fibrosarcoma cells. Selected A9 transfectant clones (and control untransfected and 'irrelevant' alphoid YAC transfectant A9 clones) were assayed for in vivo tumorigenicity in athymic female Balb c-nu/nu mice. All the 11q YAC transfectant clones demonstrated significant tumour suppression compared to the control untransfected and 'irrelevant' YAC transfected A9 cells. These results define two discrete tumour suppressor loci on chromosome 11q by functional complementation, one to a approximately 1.2 Mb region on 11q23.1 (containing the ATM locus) and another to a approximately 400-600 kb subterminal region on 11q25-qter. (+info)Leukemia translocation protein PLZF inhibits cell growth and expression of cyclin A. (2/1929)
The PLZF gene was identified by its fusion with the RARalpha locus in a therapy resistant form of acute promyelocytic leukemia (APL) associated with the t(11;17)(q23;q21) translocation. Here we describe PLZF as a negative regulator of cell cycle progression ultimately leading to growth suppression. PLZF can bind and repress the cyclin A2 promoter while expression of cyclin A2 reverts the growth suppressed phenotype of myeloid cells expressing PLZF. In contrast RARalpha-PLZF, a fusion protein generated in t(11;17)(q23;q21)-APL activates cyclin A2 transcription and allows expression of cyclin A in anchorage-deprived NIH3T3 cells. Therefore, cyclin A2 is a candidate target gene for PLZF and inhibition of cyclin A expression may contribute to the growth suppressive properties of PLZF. Deregulation of cyclin A2 by RARalpha-PLZF may represent an oncogenic mechanism of this chimeric protein and contribute to the aggressive clinical phenotype of t(11;17)(q23;q21)-associated APL. (+info)Retinoic acid, but not arsenic trioxide, degrades the PLZF/RARalpha fusion protein, without inducing terminal differentiation or apoptosis, in a RA-therapy resistant t(11;17)(q23;q21) APL patient. (3/1929)
Primary blasts of a t(11;17)(q23;q21) acute promyelocytic leukaemia (APL) patient were analysed with respect to retinoic acid (RA) and arsenic trioxide (As2O3) sensitivity as well as PLZF/RARalpha status. Although RA induced partial monocytic differentiation ex vivo, but not in vivo, As203 failed to induce apoptosis in culture, contrasting with t(15;17) APL and arguing against the clinical use of As203 in t(11;17)(q23;q21) APL. Prior to cell culture, PLZF/RARalpha was found to exactly co-localize with PML onto PML nuclear bodies. However upon cell culture, it quickly shifted towards microspeckles, its localization found in transfection experiments. Arsenic trioxide, known to induce aggregation of PML nuclear bodies, left the microspeckled PLZF/RARalpha localization completely unaffected. RA treatment led to PLZF/RARalpha degradation. However, this complete PLZF/RARalpha degradation was not accompanied by differentiation or apoptosis, which could suggest a contribution of the reciprocal RARalpha/PLZF fusion product in leukaemogenesis or the existence of irreversible changes induced by the chimera. (+info)Insertion of excised IgH switch sequences causes overexpression of cyclin D1 in a myeloma tumor cell. (4/1929)
Oncogenes are often dysregulated in B cell tumors as a result of a reciprocal translocation involving an immunoglobulin locus. The translocations are caused by errors in two developmentally regulated DNA recombination processes: V(D)J and IgH switch recombination. Both processes share the property of joining discontinuous sequences from one chromosome and releasing intervening sequences as circles that are lost from progeny cells. Here we show that these intervening sequences may instead insert in the genome and that during productive IgH mu-epsilon switch recombination in U266 myeloma tumor cells, a portion of the excised IgH switch intervening sequences containing the 3' alpha-1 enhancer has inserted on chromosome 11q13, resulting in overexpression of the adjacent cyclin D1 oncogene. (+info)Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. (5/1929)
Glycogen storage disease type 1b (GSD-1b) is proposed to be caused by a deficiency in microsomal glucose 6-phosphate (G6P) transport, causing a loss of glucose-6-phosphatase activity and glucose homeostasis. However, for decades, this disorder has defied molecular characterization. In this study, we characterize the structural organization of the G6P transporter gene and identify mutations in the gene that segregate with the GSD-1b disorder. We report the functional characterization of the recombinant G6P transporter and demonstrate that mutations uncovered in GSD-1b patients disrupt G6P transport. Our results, for the first time, define a molecular basis for functional deficiency in GSD-1b and raise the possibility that the defective G6P transporter contributes to neutropenia and neutrophil/monocyte dysfunctions characteristic of GSD-1b patients. (+info)Analysis of TSG101 tumour susceptibility gene transcripts in cervical and endometrial cancers. (6/1929)
Carcinoma of the uterine cervix is a common malignancy among women that has been found to show loss of heterozygosity in the chromosome 11p. Recent studies have localized the TSG101 gene in this region, and also demonstrated a high frequency of abnormalities of this gene in human breast cancer. To determine the role of the TSG101 gene in the carcinogenesis of cervical and uterine carcinoma, 19 cases of cervical carcinoma and five cases of endometrial carcinoma, as well as nearby non-cancerous tissue from the same patients, and 16 blood samples from healthy persons as normal control were analysed by Southern blot analysis of genomic DNA, reverse transcription of the TSG101 mRNA followed by PCR amplification and sequencing of the products. We found that abnormal transcripts of the TSG101 gene were common both in cancerous or non-cancerous tissues of the uterus and cervix and in normal peripheral mononuclear cells. There was no genomic deletion or rearrangement in spite of the presence of abnormal transcripts, and no definite relationship between the abnormal transcripts and HPV infection was found. Although the frequency of abnormal transcripts was higher in cancerous than in non-cancerous tissue, normal peripheral mononuclear cells also had abnormal transcripts. Given these findings, the role of the TSG101 gene as a tumour-suppressor gene should be re-evaluated. Because some aberrant transcripts could be found at the first PCR reaction, we suggest that the aberrant transcripts might be the result of imperfect minor splicesome products. (+info)Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11. (7/1929)
Derivative 22 (der[22]) syndrome is a rare disorder associated with multiple congenital anomalies, including profound mental retardation, preauricular skin tags or pits, and conotruncal heart defects. It can occur in offspring of carriers of the constitutional t(11;22)(q23;q11) translocation, owing to a 3:1 meiotic malsegregation event resulting in partial trisomy of chromosomes 11 and 22. The trisomic region on chromosome 22 overlaps the region hemizygously deleted in another congenital anomaly disorder, velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS). Most patients with VCFS/DGS have a similar 3-Mb deletion, whereas some have a nested distal deletion endpoint resulting in a 1.5-Mb deletion, and a few rare patients have unique deletions. To define the interval on 22q11 containing the t(11;22) breakpoint, haplotype analysis and FISH mapping were performed for five patients with der(22) syndrome. Analysis of all the patients was consistent with 3:1 meiotic malsegregation in the t(11;22) carrier parent. FISH-mapping studies showed that the t(11;22) breakpoint occurred in the same interval as the 1.5-Mb distal deletion breakpoint for VCFS. The deletion breakpoint of one VCFS patient with an unbalanced t(18;22) translocation also occurred in the same region. Hamster-human somatic hybrid cell lines from a patient with der(22) syndrome and a patient with VCFS showed that the breakpoints occurred in an interval containing low-copy repeats, distal to RANBP1 and proximal to ZNF74. The presence of low-copy repetitive sequences may confer susceptibility to chromosome rearrangements. A 1.5-Mb region of overlap on 22q11 in both syndromes suggests the presence of dosage-dependent genes in this interval. (+info)Two novel genes in the center of the 11p15 imprinted domain escape genomic imprinting. (8/1929)
We previously reported the isolation of a 2.5 Mb tumor-suppressing subchromosomal transferable fragment (STF) from human chromosome 11p15 and the identification of nine known genes and four novel genes within this STF. We now report the isolation of two novel cDNAs, designated here as TSSC4 and TSSC6 (tumor-suppressing STF cDNA 4 and 6), located within the STF. TSSC4 and TSSC6 encode predicted proteins of 329 and 290 amino acids, respectively, with no close similarity to previously reported proteins. TSSC4 and TSSC6 are both located in the center of a 1 Mb imprinted domain, which contains the imprinted genes TSSC3, TSSC5, p57(KIP2), KVLQT1, ASCL2, IGF2 and H19. However, we found that neither TSSC4 nor TSSC6 was significantly imprinted in any of the fetal or extra-embryonic tissues examined. Based on this result, the imprinted gene domain of 11p15 appears to contain at least two imprinted subdomains, between which TSSC4 and TSSC6 substantially escape imprinting, due either to lack of initial silencing or to an early developmental relaxation of imprinting. (+info)DMOZ - Health: Conditions and Diseases: Congenital Anomalies: Jacobsen Syndrome
Ilse Denise Jacobsen - Leibniz-Institut für Naturstoff-Forschung und Infektionsbiologie e. V. - Hans-Knöll-Institut (HKI)
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CCDC82
Genes on human chromosome 11). ... The DNA sequence is 37,155 base pairs long and contains 7 exons ... Human CCDC82 genome location and CCDC82 gene details page in the UCSC Genome Browser. (CS1 errors: missing periodical, All ... The CCDC82 gene is expressed in nearly all of human tissues at somewhat low rates. As of today, there are no patents involving ... The molecular weight is 40.0 kdal and the isoelectric point is 4.383 CCDC82 is found in nearly all tissues in the human body, ...
SIGIRR
Human gene SIGIRR is localized on chromosome 11. It is composed of 10 exons spanning about 11 700 base pairs. In mouse, this ... gene is on chromosome 7, where it is composed of 9 exons spanning about 9 400 base pairs. SIGIRR is 410 amino acids long ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 11). ... In human cells from colonic cancer, there was observed an increased expression of one variant of SIGIRR. This variant lacks its ...
Quercus robur
It comprises 12 chromosomes pairs, about 26,000 genes and 750 million bp. This is roughly a quarter of the size of the human ... Jays were overwhelmingly the primary propagators of oaks before humans began planting them commercially (and still remain the ... Retrieved 2021-11-19. "The Plant List: A Working List of All Plant Species". Nixon, Kevin C. (1997). "Quercus robur". In Flora ... Archived from the original on 2019-11-01. Retrieved 2022-06-03. Fifty Trees of Distinction by Prof. D.A. Webb and the Earl of ...
CFAP298
... is a gene found on the 21st chromosome at 21q22.1. A total of thirteen splice variants have been found, but only eleven ... The most common form of CFAP298 mRNA has 1427 base pairs broken into seven exons. Its closest neighbors on the chromosome are ... June 2006). "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 ... June 2006). "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 ...
Proton coupled amino acid transporter
The human protein acid transporter (hPAT1) is 5585 base pairs long and codes for a protein 476 amino acids long. The ... The hPAT1 gene is located on chromosome 5q31-33 and has 11 exons that are coding regions. Its translation site begins in exon 2 ... The SLC36 family of genes maps to chromosome 11. The diversity of these receptors is vast, with the ability to transport both ... In humans, similar expression patterns are observed and their function correlates to their location anatomically. Being located ...
C11orf86
Genes on human chromosome 11, Uncharacterized proteins). ... It consists of 1732 base pairs, and is found on the plus strand ... Chromosome 11 open reading frame 86, also known as C11orf86, is a protein-coding gene in humans. It encodes for a protein known ... "C11orf86 chromosome 11 open reading frame 86 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2016-05-09 ... The transcript used for this article is made up of two exons, amounting to 1185 base pairs, and has the reference number NM_ ...
TEX55
... is a human protein that is encoded by the C3orf30 gene located on the forward strand of human chromosome three, open reading ... The mRNA of TEX55 is 1800 base pairs long and has three exons. According to GeneCard, the TEX55 mRNA has 3 theoretical splice ... Expression of TEX55 mRNA can be found in most tissues in the human body, from the brain to the prostate. However, the protein ... Analysis done by the Human Protein Atlas indicates that the TEX55 protein can be found not only in the testis, but also the ...
ALOX15
1992) demonstrated that genes for 12-lipoxygenase and 15-lipoxygenase are located on human chromosome 17, whereas the most ... Consequently, human ALOX15 is now referred to as arachidonate-15-lipoxygenase-1, 15-lipoxygenase-1, 15-LOX-1, 15-LO-1, human 12 ... The distribution of Alox15 in sub-human primates and, in particular, rodents differs significantly from that of human ALOX15; ... In humans, it is encoded by the ALOX15 gene located on chromosome 17p13.3. This 11 kilobase pair gene consists of 14 exons and ...
TMEM126A
Genes on human chromosome 11). ... It is 734 base pairs long and found far upstream of the coding ... "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome ... TMEM126 is located on the long arm of chromosome 11 in humans. It is found on the first sub-band of the fourth band within the ... TMEM126A has two isoforms and is found on the long arm of Chromosome 11 in region 1, band 4, sub-band 1. It is produced by the ...
Cyclin D1
The human CCND1 gene is located on the long arm of chromosome 11 (band 11q13). It is 13,388 base pairs long, and translates ... Fantl V, Smith R, Brookes S, Dickson C, Peters G (1993). "Chromosome 11q13 abnormalities in human breast cancer". Cancer ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome 11, CS1: long volume ... within the amplified chromosome 11q13 region in human carcinomas". Oncogene. 7 (2): 355-61. PMID 1532244. Seto M, Yamamoto K, ...
C11orf98
CS1 errors: missing periodical, CS1 maint: url-status, Genes on human chromosome 11). ... It spans across 2,394 base pairs of DNA and produces an mRNA that is 646 base pairs long. This gene is expressed at a very high ... "Human hg38 chr11:62,662,817-62,665,210 UCSC Genome Browser v424". genome.ucsc.edu. Retrieved 2021-12-16. "Human hg38 chr11: ... "C11orf98 chromosome 11 open reading frame 98 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-10-04 ...
Coiled-coil domain containing 74a
The gene locus is located on the long arm of chromosome 2 at 2q21.1, and spans 5991 base pairs. A common alternative alias is ... In humans, CCDC74A has one important paralog, CCDC74B. Gene duplication is estimated to have occurred approximately 7 million ... Coiled-coil domain containing 74A is a protein that in humans is encoded by the CCDC74A gene. The protein is most highly ... However, distant orthologs prior to gene duplication are conserved in species that diverged from humans between 92-797 MYA. ...
PITX1
... maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft)". Genomics. 40 (1): 108-13. doi:10.1006/geno.1996.4558. PMID ... Paired-like homeodomain 1 is a protein that in humans is encoded by the PITX1 gene. This gene encodes a member of the RIEG/PITX ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 5, Wikipedia articles ... October 2011). "Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice". Human Molecular ...
YIF1A
It has 4,591 base pairs with 8 exons, and it is located on the minus strand of chromosome 11, at 11q13.2, in humans. There are ... which is located on human chromosome 19. YIF1A has 238 identified orthologs. The ortholog contains vertebrates such as mammals ... "Human BLAT Search". genome.ucsc.edu. Retrieved 2020-07-02. Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method ... Jin C, Zhang Y, Zhu H, Ahmed K, Fu C, Yao X (August 2005). "Human Yip1A specifies the localization of Yif1 to the Golgi ...
TMEM33
This 1069 base pair promoter sequence spans 41936535-41937603 on human chromosome 4. The promoter sequence overlaps with the 5 ... Eleven different mRNA transcript variants of TMEM33 exist, 9 alternatively spliced variants and 2 unspliced forms. Only 5 ... In humans, this gene's DNA location is the short arm of chromosome 4, loci position: 4p13. The genomic range is 41937502- ... Transcripts a, b, and c have a 744 base pair long coding range and a particularly long 3' UTR that is 6000 base pairs long. In ...
Dopamine receptor D4
The 48-base pair VNTR has been the subject of much speculation about its evolution and role in human behaviors cross-culturally ... The human protein is coded by the DRD4 on chromosome 11 located in 11p15.5. There are slight variations (mutations/ ... polymorphisms) in the human gene: A 48-base pair VNTR in exon 3 C-521T in the promoter 13-base pair deletion of bases 235 to ... Genes on human chromosome 11, Wikipedia articles needing clarification from December 2018, Wikipedia articles incorporating ...
HSPB7
Genes on human chromosome, Genes on human chromosome 1, Human proteins, Genetics). ... which contains eleven family members of chaperone proteins. HSPB7 and its gene pair SRARP are located 5 kb apart on the ... in humans is a protein encoded by a gene of the same name with four exons that is located on chromosome 1p36.13.,. HSPB7 ... human)]". The National Center for Biotechnology Information.{{cite web}}: CS1 maint: url-status (link) "HSPB7_HUMAN". UniProt ...
POTEB
... is located at 15q11.2 on chromosome 15 in humans and is transcribed from the reverse DNA strand. POTEB is also known as ... The POTEB gene is 47,547 base pairs in length and is composed of 11 exons. The POTEB gene can be transcribed to create four ... POTEB has 8 predicted paralogs (According to protein sequence) in humans, with most paralogs being located on different human ... "Selective POTE paralogs on chromosome 2 are expressed in human embryonic stem cells". Stem Cells and Development. 17 (2): 325- ...
Bartonella quintana
... contains a single circular chromosome of 1,587,646 base pairs. B. quintana is a fastidious, aerobic, Gram-negative(-), pole rod ... Its primary vector is known to be Pediculus humanus variety corporis, also known as the human body louse. It was first known to ... Although lice are animal vectors, humans (and some other primates) are the only known animal reservoir hosts for this bacterium ... Hadfield, T.L.; Warren, R.; Kass, M.; Brun, E.; Levy, C. (1993). "Endocarditis caused by Rochalimaea henselae". Human Pathology ...
Skink
... genomes are typically about 1.5Gb, approximately 1/2 the size of the human genome. The Christmas Island blue-tailed skink ... Despite making up 15% of reptiles, skinks have a relatively conserved chromosome number, between 11 and 16 pairs. ... Kostmann, Alexander; Kratochvíl, Lukáš; Rovatsos, Michail (2021-01-27). "Poorly differentiated XX/XY sex chromosomes are widely ... Despite having sex chromosomes that are not distinguishable with a microscope, all major skink lineages share an old XY system ...
TMEM176B
Genes on human chromosome 7). ... It has 10,074 base pairs and has a total of 11 exons. TMEM176A ... The gene is found on the minus end of Chromosome 7, on the long arm at position 7q36.1. The starting position of the gene is at ... Transmembrane Protein 176B, or TMEM176B is a transmembrane protein that in humans is encoded by the TMEM176B gene. It is ... Danielle Thierry-Mieg and Jean Thierry-Mieg, . "Aceview: Geneid:TMEM176B, A Comprehensive Annotation Of Human, Mouse And Worm ...
Morn repeat containing 1
CS1 errors: missing periodical, Genes on human chromosome 1, Human proteins). ... The MORN1 gene is located on Chromosome 1 at locus 1p36.33 and contains 7 MORN repeats. It has 1641 base pairs in 14 exons in ... 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. Bibcode:2006Natur.441.. ... MORN1 containing repeat 1, also known as Morn1, is a protein that in humans is encoded by the MORN1 gene. The function of Morn1 ...
SMCO3
... is located on the negative strand of chromosome 12 (12p12.3) and spans 10,460 base pairs (chr12:14,803,723-14,814,182). ... Single-pass membrane and coiled-coil domain-containing protein 3 is a protein that is encoded in humans by the SMCO3 gene. ... The promoter region of SMCO3 is 1,100 base pairs long and begins 961 base pairs upstream of the 5' UTR with the end of the ... The mRNA transcript of SMCO3 is 2,104 base pair long. There are no mRNA variants of SMCO3. The SMCO3 promoter has many ...
UPF0602
... is a protein in humans that is encoded by the chromosome 4 open reading frame 47 (c4orf47) gene. The c4orf47 gene is ... positioned at 4q35.1 on the plus strand and spans 44,602 base pairs in length (185,405,227...185,449,828). The gene is made up ... Retrieved 4 October 2021.{{cite web}}: CS1 maint: url-status (link) "C4orf47 chromosome 4 open reading frame 47 [Homo sapiens ( ... 2 July 2021.{{cite journal}}: CS1 maint: url-status (link) "Homo sapiens chromosome 4 open reading frame 47 (C4orf47), ...
C22orf15
GXP_9794292 is 1040 base pairs in length spanning from base pair 23,758,601 to 23,759,640 on chromosome 22, while GXP_6747563 ... in humans, is encoded by the C22orf15 gene. The locus of C22orf15 in humans is on the long arm (q) of chromosome 22 in region ... "C22orf15 chromosome 22 open reading frame 15 [ Homo sapiens (human) ]". NCBI gene. U.S. National Library of Medicine. "C22orf15 ... "C22orf15 chromosome 22 open reading frame 15 [ Homo sapiens (human) ]". NCBI gene. U.S. National Library of Medicine. "C22orf15 ...
MSH4
"MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice". ... Genes on human chromosome 1, Webarchive template wayback links). ... MutS protein homolog 4 is a protein that in humans is encoded ... indicating that it is not needed for establishing the preceding stages of pairing and synapsis of homologous chromosomes. In an ... Yi W, Wu X, Lee TH, Doggett NA, Her C (Jul 2005). "Two variants of MutS homolog hMSH5: prevalence in humans and effects on ...
Barth syndrome
The human tafazzin gene is over 10,000 base pairs in length, the full-length mRNA, NM_000116, being 1919 nucleotides long, ... It is located at Xq28; the long arm of the X chromosome. This explains the X-linked nature of Barth Syndrome. There are some ... Human Gene Therapy. 30 (2): 139-154. doi:10.1089/hum.2018.020. ISSN 1043-0342. PMC 6383582. PMID 30070157. "Gene therapy for ... 42 (11): 1994-9. doi:10.1016/j.jacc.2003.06.015. PMID 14662265. Vreken P, Valianpour F, Nijtmans LG, et al. (December 2000). " ...
C15orf52
Chromosome 15 open reading frame 52 is a human protein encoded by the C15orf52 gene, its function is poorly understood. ... The linear mRNA is 5344 base pairs long. The mRNA contains a short 5' untranslated region of 15 base pairs and a long 3' ... C15orf52 is a gene located on the reverse strand of chromosome 15 in the species Homo sapiens at locus 15q15.1. The gene is ... Glycine and Arginine were found at higher frequencies than other proteins in humans. The isoelectric point of the protein is ...
Cornish Rex
A gene on chromosome A1, the lysophosphatidic acid receptor 6 (LPAR6), was identified to have a 4 base pair deletion. This ... In humans, LPAR6 mutations result in a form of ectodermal dysplasia characterised by a woolly hair phenotype. The Cornish Rex ... Genome-wide analyses were performed in the Cornish Rex breed and in 11 phenotypically diverse breeds and two random bred ...
TMEM63A
The human gene product is a 4,469 base pair mRNA with 25 predicted exons. There are 9 predicted splice isoforms of the gene, ... TMEM63A is located on the negative DNA strand of chromosome 1 at location 1q42.12, spanning base pairs 226,033,237 to ... "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain ... The predicted promoter region spans 971 base pairs, from 226,070,920 to 226,069,950 on the negative strand of chromosome 1. ...
Protein-protein interaction
... known interacting protein pairs) and a negative set (non-interacting protein pairs) is needed for the development of a ... The Conserved Neighborhood method is based on the hypothesis that if genes encoding two proteins are neighbors on a chromosome ... Prediction databases include many PPIs that are predicted using several techniques (main article). Examples: Human Protein- ... and humans.[44] In such studies, numerous mutations defective in the same gene were often isolated and mapped in a linear order ...
Species
UniProt employs an "organism mnemonic" of not more than five alphanumeric characters, e.g., HUMAN for H. sapiens.[115] ... Reproductive isolation is threatened by hybridisation, but this can be selected against once a pair of populations have ... sets of chromosomes) and allozymes (enzyme variants).[46] ... using regions of about 10,000 base pairs. With enough data from ... Conserving Biodiversity in Human-Dominated Landscapes. Washington: Island Press. pp. 150-163. Archived from the original on 7 ...
Hausa people
Other designs may include a line along the bridge of the nose, or a single pair of small symmetical dots on the cheeks. ... Jared Diamond, 'Guns, Germs, and Steel: The Fates of Human Societies' (1997) Chapter 19 ... "Y-Chromosome Variation Among Sudanese: Restricted Gene Flow, Concordance With Language, Geography, and History" Archived 2016- ...
মানুষ - উইকিপিডিয়া
Therman, Eeva (১৯৮০)। Human Chromosomes: Structure, Behavior, Effects। Springer US। পৃষ্ঠা 112-24। আইএসবিএন 978-1-4684-0109-7। ... Machin, GA (জানুয়ারি ১৯৯৬)। "Some causes of genotypic and phenotypic discordance in monozygotic twin pairs"। American Journal ... "Human Anatomy"। Inner Body। সংগ্রহের তারিখ ৬ জানুয়ারি ২০১৩।. *↑ Parker-Pope, Tara (অক্টোবর ২৭, ২০০৯)। "The Human Body Is Built ... "The Science Behind the Human Genome Project"। Human Genome Project। US Department of Energy। ২ জানুয়ারি ২০১৩ তারিখে মূল থেকে ...
Biological basis of love
Empathy allows humans to experience love and to build bonds. The moral that humans gain from empathy allow them to repair and ... Throughout much of the life course, it serves mate choice, courtship, sex, and pair-bonding functions. It is a suite of ... Evolution of human music through sexual selection by G. F. Miller in N. L. Wallin, B. Merker, & S. Brown (Eds.), The origins of ... The Mating Mind: How Sexual Choice Shaped the Evolution of Human Nature Archived 15 May 2007 at the Wayback Machine by Geoffrey ...
Amyloid beta
"Human Molecular Genetics. 10 (16): 1665-71. doi:10.1093/hmg/10.16.1665. PMID 11487570.. ... One sensitive method is ELISA which is an immunosorbent assay which utilizes a pair of antibodies that recognize amyloid beta.[ ... The gene for the amyloid precursor protein is located on chromosome 21, and accordingly people with Down syndrome have a very ... To date, human testing has been avoided due to concern that it might interfere with signaling via Notch proteins and other cell ...
Transcription factor
"List Of All Transcription Factors In Human". biostars.org.. *^ Gill G (2001). "Regulation of the initiation of eukaryotic ... Transcription factors (like all proteins) are transcribed from a gene on a chromosome into RNA, and then the RNA is translated ... Pairs of transcription factors and other proteins can play antagonistic roles (activator versus repressor) in the regulation of ... There are up to 1600 TFs in the human genome.[3] Transcription factors are members of the proteome as well as regulome. ...
Nervi - Viquipèdia, l'enciclopèdia lliure
Anatomy of the Human Body. Chap. IX: Neurology. 22th Edition (en anglès). Lea & Febiger, Philadelphia, 1918 [Consulta: 3 ... Ambros IM, Zellner A, Roald B, Amann G, et al «Role of ploidy, chromosome 1p, and Schwann cells in the maturation of ... XI parell cranial Nervi accessori espinal Mixt Innervació múscul trapezi i esternocleidomastoïdal ... Trochet, D; Bourdeaut, F; Janoueix-Lerosey, I; Deville, A; et al «Germline Mutations of the Paired-Like Homeobox 2B (PHOX2B) ...
Snake
Males ordinarily have a ZZ pair of sex-determining chromosomes, and females a ZW pair. However, the Colombian Rainbow boa ( ... Interactions with humans. Most common symptoms of any kind of snake bite envenomation.[109][110] Furthermore, there is vast ... Some species retain a pelvic girdle with a pair of vestigial claws on either side of the cloaca. Lizards have evolved elongate ... In some snakes, most notably boas and pythons, there are vestiges of the hindlimbs in the form of a pair of pelvic spurs. These ...
Genome project
For the human species, whose genome includes 22 pairs of autosomes and 2 sex chromosomes, a complete genome sequence will ... "Potential Benefits of Human Genome Project Research". Department of Energy, Human Genome Project Information. 2009-10-09. ... For a bacterium containing a single chromosome, a genome project will aim to map the sequence of that chromosome. ... For humans, this will allow us to better understand aspects of human genetic diversity. ...
Hypodontia
"American Journal of Human Genetics. 74 (5): 1043-50. doi:10.1086/386293. PMC 1181967. PMID 15042511.. ... Heterozygous mutations in PAX9 (paired box gene 9) could arrest tooth morphogenesis as it plays a role of transcription the ... "A locus for autosomal recessive hypodontia with associated dental anomalies maps to chromosome 16q12.1". American Journal of ... "Journal of Human Genetics. 51 (3): 262-6. doi:10.1007/s10038-005-0353-6. PMID 16432638.. ...
ജീവപരിണാമം - വിക്കിപീഡിയ
Zhang Z, Gerstein M (2004). "Large-scale analysis of pseudogenes in the human genome". Curr. Opin. Genet. Dev. 14 (4): 328-35. ... Radding C (1982). "Homologous pairing and strand exchange in genetic recombination". Annu. Rev. Genet. 16 (1): 405-37. doi: ... "Genome fragment of Wolbachia endosymbiont transferred to X chromosome of host insect". Proc. Natl. Acad. Sci. U.S.A. 99 (22): ... Is the human race evolving or devolving? Scientific American July 20, 1998. ...
Camel
A 2007 study flow sorted camel chromosomes, building on the fact that camels have 37 pairs of chromosomes (2n=74), and found ... 2007). "Cross-species chromosome painting among camel, cattle, pig and human: further insights into the putative ... When humans first domesticated camels is disputed. Dromedaries may have first been domesticated by humans in Somalia or South ... The Y is a small metacentric chromosome, while the X is a large metacentric chromosome.[52] ...
Eurasian beaver
An additional pair was released to increase genetic diversity in 2016.[62][63] As part of a scientific study, a pair of ... The difference in chromosome count makes interspecific breeding unlikely in areas where the two species' ranges overlap.[3] ... The Eurasian beaver is recovering from near extinction, after depredation by humans for its fur and for castoreum, a secretion ... On 19 November 2011, a pair of beaver sisters was released into a 2.5-acre (1 ha) enclosure at Blaeneinion,[97] A colony of ...
Sumatran orangutan
Number of chromosomes. 24 pairs. Year of completion. 2011. Orangutans have 48 chromosomes.[23] The Sumatran orangutan genome ... This remains the only known case, but raises the question of why the known human cure for Streptococcus was ineffective in this ... They are extremely large animals, weighing between 50 and 90 kilograms, roughly the weight of a fully grown human. They have a ... The orangutan genome also has fewer rearrangements than the chimpanzee/human lineage.[24] ...
Flower
The first ten classes follow the number of stamens directly (Octandria have 8 stamens etc.),[109] while class eleven has 11-20 ... Flowers that reflect the full range of visible light are generally perceived as white by a human observer. An important feature ... they are often paired with an external vector.[94] ... two copies of each chromosome) cell.[78] ... Humans observers will perceive this as degrees of saturation (the amount of white in the color). ...
Laboratory mouse
The haploid genome is about three billion base pairs long (3,000 Mb distributed over 19 autosomal chromosomes plus 1 ... Mice differ from humans in several immune properties: mice are more resistant to some toxins than humans; have a lower total ... respectively 2 sex chromosomes), therefore equal to the size of the human genome.[citation needed] Estimating the number of ... The current count of primary coding genes in the laboratory mouse is 23,139.[12] compared to an estimated 20,774 in humans.[12] ...
DNA repair
When the chromosome is replicated, this gives rise to one daughter chromosome that is heavily methylated downstream of the ... In MMEJ repair of a double-strand break, an homology of 5-25 complementary base pairs between both paired strands is sufficient ... In human cells, and eukaryotic cells in general, DNA is found in two cellular locations - inside the nucleus and inside the ... In human cells, oxidative DNA damage occurs about 10,000 times a day and DNA double-strand breaks occur about 10 to 50 times a ...
Color blindness
Stewart, Dugald (1792). Elements of the philosophy of the human mind (1 ed.). p. 80. Retrieved 14 April 2022.. ... These conditions are mediated by the OPN1SW gene on Chromosome 7. Other genetic causes[edit]. Several inherited diseases are ... Confusion colors are pairs or groups of colors that will often be mistaken by the colorblind. Confusion colors for red-green ... "Human Vision and Color Perception". Florida State University. Archived from the original on 27 August 2007. Retrieved 5 April ...
Mutation
For example, in the Homininae, two chromosomes fused to produce human chromosome 2; this fusion did not occur in the lineage of ... HIV resistance: a specific 32 base pair deletion in human CCR5 (CCR5-Δ32) confers HIV resistance to homozygotes and delays AIDS ... In humans, the mutation rate is about 50-90 de novo mutations per genome per generation, that is, each human accumulates about ... Ségurel L, Bon C (August 2017). "On the Evolution of Lactase Persistence in Humans". Annual Review of Genomics and Human ...
Microhomology-mediated end joining
In humans, DNA polymerase theta, encoded by the POLQ gene, plays a central role in microhomology-mediated end joining.[7] ... MMEJ is frequently associated with chromosome abnormalities such as deletions, translocations, inversions and other complex ... often 5-25 base pairs, between the two strands. A specialized form of MMEJ, called polymerase theta-mediated end-joining (TMEJ ... Human homologous recombination factors suppress mutagenic MMEJ following double-strand break resection.[8] ...
North American beaver
Svendsen G. E. (1989). "Pair formation, duration of pair-bonds, and mate replacement in a population of beavers (Castor ... Relationship with humans[edit]. As introduced non-native species[edit]. See also: Beaver eradication in Tierra del Fuego ... North American beavers have 40 chromosomes, while European beavers have 48. Also, more than 27 attempts were made in Russia to ... Although the fur enterprise failed, 25 mating pairs of beavers were released into the wild. Having no natural predators in ...
Antibody
... are found on chromosomes 22 and 2 in humans. One of these domains is called the variable domain, which is present in each heavy ... whose flexibility allows antibodies to bind to pairs of epitopes at various distances, to form complexes (dimers, trimers, etc ... In humans and most mammals, an antibody unit consists of four polypeptide chains; two identical heavy chains and two identical ... Rhoades RA, Pflanzer RG (2002). Human Physiology (5th ed.). Thomson Learning. p. 584. ISBN 978-0-534-42174-8. .. ...
Vicia faba
V. faba has a diploid (2n) chromosome number of 12 (six homologous pairs). Five pairs are acrocentric chromosomes and one pair ... In much of the English-speaking world, the name "broad bean" is used for the large-seeded cultivars grown for human food, while ... It is widely cultivated as a crop for human consumption, and also as a cover crop. Varieties with smaller, harder seeds that ... Beans generally contain phytohaemagglutinin, a lectin that occurs naturally in plants, animals, and humans.[18] Most of the ...
Jewish diaspora
"The Y Chromosome Pool of Jews as Part of the Genetic Landscape of the Middle East". The American Journal of Human Genetics. 69 ... M. Avi-Yonah, The Jews under Roman and Byzantine Rule, Jerusalem 1984 chapters XI-XII ... that overlies Druze and Cypriot samples but not samples from other Levantine populations or paired diaspora host populations. ... "Human Biology Open Access Pre-Prints. 85 (6).. *^ Eva Fernández; Alejandro Pérez-Pérez; Cristina Gamba; Eva Prats; Pedro Cuesta ...
Terminal deoxynucleotidyl transferase
"The terminal deoxynucleotidyltransferase gene is located on human chromosome 10 (10q23----q24) and on mouse chromosome 19". ... This occurs optimally with a one base-pair break between strands and less so with an increasing gap. This is facilitated by a ... "Chromosome localization of the gene for human terminal deoxynucleotidyltransferase to region 10q23-q25". Proceedings of the ... In humans, terminal transferase is encoded by the DNTT gene.[5][6] As a member of the X family of DNA polymerase enzymes, it ...
Deletion (genetics)
The International System for Human Cytogenomic Nomenclature (ISCN) is an international standard for human chromosome ... It shows 22 homologous autosomal chromosome pairs as well as both the female (XX) and male (XY) versions of the two sex ... symbols and abbreviated terms used in the description of human chromosome and chromosome abnormalities. Abbreviations include a ... Human karyotype with annotated bands and sub-bands as used for the nomenclature of chromosome abnormalities. It shows dark and ...
Horse
... hae 64 chromosomes.[35] The horse genome wis sequenced in 2007. It conteens 2.7 billion DNA base pairs,[36] that is ... Horse are nae ruminants, thay hae anerly oane painch, lik humans, but unlik humans, thay can utilize cellulose, a major ... The exterior huif waw an horn o the sole is made o keratin, the same material as a human fingernail.[60] The end result is that ... Unlik humans, horse dae nae sleep in a solit, unbroken period o time, but tak mony short periods o rest. Horse spend fower tae ...
Bayes' theorem
displaystyle f_{Y}(y)=\int _{-\infty }^{\infty }f_{Y,X=\xi }(y)f_{X}(\xi )\,d\xi .}. Bayes' rule in odds form[edit]. Bayes' ... The pair of derivative inverted conditional opinions is denoted (. ω. A. ,. ~. B. S. ,. ω. A. ,. ~. ¬. B. S. ). {\displaystyle ... Allen, Richard (1999). David Hartley on Human Nature. SUNY Press. pp. 243-4. ISBN 978-0-7914-9451-6. . Retrieved 16 June 2013. ... located on the q arm of chromosome 7.[30] ... denotes a pair of binomial conditional opinions given by source ...
Uridine monophosphate synthase
In humans, the gene that codes for this enzyme is located on the long arm of chromosome 3 (3q13). This bifunctional enzyme has ... In Salmonella typhimurium, a new pair of antiparallel β-sheets is created and five new interatomic contacts are formed in the ... Portal: Biology (Genes on human chromosome 3, EC 4.1.1, EC 2.4.2). ... "Localization of the gene for uridine monophosphate synthase to human chromosome region 3q13 by in situ hybridization". Genomics ...
Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation
Chromosome Aberrations* * Chromosomes, Human, Pair 11 / genetics* * DNA Methylation * Female * Fetal Death / genetics ... Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation Hum Genet. 2002 Sep; ... Patient 2 is a 4-year-old female with a derived chromosome 20, which arose from adjacent 1 malsegregation of a maternal t(11;20 ... p15.3;q13.33). Patient 3 presented as an intrauterine death with trisomy for the majority of chromosome 11p as a result of 3:1 ...
Chromosomes and DNA: MedlinePlus Medical Encyclopedia Image
... or 46 chromosomes in total. Chromosomes are made up of long strands of DNA, which contain all the bodys genes. ... Humans typically have 23 pairs chromosomes, or 46 chromosomes in total. Chromosomes are made up of long strands of DNA, which ... National Library of Medicine 8600 Rockville Pike, Bethesda, MD 20894 U.S. Department of Health and Human Services National ...
Aiden Eliot Shearer, M.D. | Harvard Catalyst Profiles | Harvard Catalyst
Chronic myelomonocytic leukemia: 2012 update on diagnosis, risk stratification, and management - Fingerprint - Mayo Clinic
Limb-Girdle Muscular Dystrophy Clinical Presentation: History, Causes
LGMD1D (note that some references call this LGMD1E) is caused by a mutation on chromosome 6 in the DES gene. [46] See below for ... Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol. 2005 Feb. 57(2):269-76. [QxMD MEDLINE Link] ... LGMD2V is caused by a mutation on chromosome 17 in the GAA gene (see Genetics of Glycogen-Storage Disease Type II (Pompe ... LGMD1E (note that some references call this LGMD1D) is caused by a mutation on chromosome 7 in the DNAJB6 gene (DNAJ/HSP40 ...
You Don't Need Religion to Know Killing Babies in Abortions is Wrong - LifeNews.com
Humans have 23 pairs of chromosomes which are composed of genes, which are composed of DNA. Humans have around 20,000 genes on ... The human life in the womb has exactly the same number of chromosomes and genes as the mother and father and other humans, but ... Abortion kills this human being at an early stage of life and should be opposed by ethical human beings. To some it may also be ... Thoughtful humans innately know that human life is precious, and many vigorously oppose the death penalty for this reason. Even ...
Concomitance of a novel RMDN2-ALK fusion and an EML4-ALK fusion in a lung adenocarcinoma<...
Chromosomes, Human, Pair 2 Medicine & Life Sciences 10% * Gene Fusion Medicine & Life Sciences 4% ... Genome-wide copy number variants were found in multiple chromosome arms and the short arm of chromosome 2, suggestive of ... Genome-wide copy number variants were found in multiple chromosome arms and the short arm of chromosome 2, suggestive of ... Genome-wide copy number variants were found in multiple chromosome arms and the short arm of chromosome 2, suggestive of ...
JaypeeDigital | eBook Reader
In humans, autosomal chromosomes occur in pairs. As each member of chromosome 16 has two α gene loci (a locus refers to ... Factor XI (MW 160,000; 1/2 life 40-80 hours): F XI is activated by F XIIa in the presence of high molecular weight kininogen. ... The HLA or human leucocyte antigens are encoded by a cluster of genes on short arm of chromosome 6 called as major ... Structure of globin genes: Normal haemoglobin is a tetramer composed of a pair of α-like and a pair of β-like polypeptide ...
Atypical Scrapie Prions from Sheep and Lack of Disease in Transgenic Mice Overexpressing Human Prion Protein - Volume 19,...
... by using 84 FVB-specific PCR microsatellite markers covering 19 chromosomes at ≈20-cM intervals, to select breeding pairs ... Selected congenic pairs were interbred to remove the endogenous murine PrP gene and to establish homozygosity of the human PrP ... Collinge J, Whitfield J, McKintosh E, Beck J, Mead S, Thomas DJ, Kuru in the 21st century-an acquired human prion disease with ... Wadsworth JD, Powell C, Beck JA, Joiner S, Linehan JM, Brandner S, Molecular diagnosis of human prion disease. Methods Mol Biol ...
Chromosomes, Human, Pair 4 | Profiles RNS
Human, Pair 4" by people in this website by year, and whether "Chromosomes, Human, Pair 4" was a major or minor topic of these ... A specific pair of GROUP B CHROMOSOMES of the human chromosome classification. ... "Chromosomes, Human, Pair 4" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 4" by people in Profiles. ...
Publication : USDA ARS
In the human genome, FURIN and FES are located adjacent to one another on the distal q arm of human chromosome 15 (HSA15) in ... Technical Abstract: Fragment of the porcine feline sarcoma oncogene (FES) gene and paired basic amino acid cleaving enzyme gene ... In the human genome, FURIN and FES are located adjacent to one another on human chromosome 15q26. These genes were expected to ... Title: MAPPING OF THE FES AND FURIN GENES TO PORCINE CHROMOSOME 7 Author. ERNST, C.W. ...
How Your Family Tree Could Catch a Killer | The New Yorker
The human cell is a masterpiece of data compression. Its nucleus, just a few microns wide, contains six feet of DNA: helical ... Because the Y chromosome is passed from father to son with little mutation, and because surnames historically were passed down ... On May 5th, she identified the killer of Terri Lynn Hollis, an eleven-year-old who was murdered in California in 1972. The ... The team identified a pair of common ancestors four generations back, only to learn that the couple had fourteen children, ...
Left cardiac sympathetic denervation in long QT syndrome patients<...
Chromosomes, Human, Pair 3 Medicine & Life Sciences 25% * Chromosomes, Human, Pair 11 Medicine & Life Sciences 24% ... The latter appears substantiated by recent advances in molecular genetics showing a linkage on chromosomes 11, 3, 7, and 4, ... The latter appears substantiated by recent advances in molecular genetics showing a linkage on chromosomes 11, 3, 7, and 4, ... The latter appears substantiated by recent advances in molecular genetics showing a linkage on chromosomes 11, 3, 7, and 4, ...
TRANSCEND MEDIA SERVICE » Peace Rattler Humanoids' Search for the Elusive, Eternal Life and Longevity (Part 1)
Humans have 23 pairs of chromosomes[65] that compromise our DNA, who we are. Each chromosome is tipped with stretches of DNA ... www.nature.com/scitable/topicpage/telomeres-of-human-chromosomes-21041 ... Given how far and wide humans have traveled for the secret to eternal life, it would be a fitting end to the search if the key ... Human immortality may still be beyond the reach of technology, but eternal life might be biologically possible. Or at least ...
Colin Willoughby - Research output
- Ulster University
Chromosomes, Human, Pair 11 38% * Victoria 36% 21 Citations (Scopus) 82 Downloads (Pure) ... Anatomy and physiology of the human eye: Effects of mucopolysaccharidoses disease on structure and function - a review. ... Angiographic and In Vivo Confocal Microscopic Characterization of Human Corneal Blood and Presumed Lymphatic Neovascularization ... A Comparative Genome-Wide Transcriptome Analysis of Glucocorticoid Responder and Non-Responder Primary Human Trabecular ...
A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait<...
Chromosomes, Human, Pair 13 Medicine & Life Sciences 11% View full fingerprint Cite this. * APA ... In: American journal of human genetics, Vol. 70, No. 1, 2002, p. 11-19.. Research output: Contribution to journal › Article › ... This high-bone-mass trait (HBM) was originally localized by linkage analysis to chromosome 11q12-13. We refined the interval by ... This high-bone-mass trait (HBM) was originally localized by linkage analysis to chromosome 11q12-13. We refined the interval by ...
Linkage exclusion analysis of two candidate regions on chromosomes 7 and 11: Leptin and UCP2/UCP3 are not QTLs for obesity in...
Chromosomes, Human, Pair 11 75% * Chromosomes, Human, Pair 7 74% * Leptin 58% ... Linkage exclusion analysis of two candidate regions on chromosomes 7 and 11: Leptin and UCP2/UCP3 are not QTLs for obesity in ... Dive into the research topics of Linkage exclusion analysis of two candidate regions on chromosomes 7 and 11: Leptin and UCP2/ ...
Cancers | Free Full-Text | BRCA-Mutated Pancreatic Cancer: From Discovery to Novel Treatment Paradigms
Recognition of human gastrointestinal cancer neoantigens by circulating PD-1+ lymphocytes. J. Clin. Invest. 2019, 129, 4992- ... BRCA2 is located on chromosome 13q12-13 and is 3418 amino acids long. BRCA2 is characterized by a very large exon 11 containing ... a 1 base pair insertion, a premature stop codon, an 11 bp deletion, a missense mutation, and a putative regulatory mutation [1 ... First-in-human study of AZD5153, a small molecule inhibitor of bromodomain protein 4 (BRD4), in patients (pts) with relapsed/ ...
Mark Slee - Research output - Research @ Flinders
Chromosomes, Human, Pair 14 100% * Multiple Sclerosis 64% * Haplotypes 45% * Polymerase Chain Reaction 43% ... Cortes, A., Field, J., Glazov, E. A., Hadler, J., ANZgene Consortium, Stankovich, J. & Brown, M. A., 1 Jun 2013, In: Human ... Genome-wide association study identifies new multiple sclerosis susceptiblity loci on chromosomes 12 and 20. Bahlo, M., Booth, ... Resequencing and fine-mapping of the chromosome 12q13-14 locus associated with multiple sclerosis refines the number of ...
Division of Biostatistics - Research output
- Research Profiles at Washington University School of Medicine
Chromosomes, Human, Pair 11 100% * African Continental Ancestry Group 76% * European Continental Ancestry Group 43% ... Keats, B. J. B., Morton, N. E. & Rao, D. C., Jan 1977, In: Human genetics. 39, 2, p. 157-159 3 p.. Research output: ... Rao, D. C. & Morton, N. E., 1973, In: American journal of human genetics. 25, 6, p. 594-597 4 p.. Research output: Contribution ... Longitudinal metabolomics of human plasma reveals prognostic markers of COVID-19 disease severity. Sindelar, M., Stancliffe, E. ...
Ronan Swords - Publications
- Oregon Health & Science University
Chromosomes, Human, Pair 14 42% * Chromosomes, Human, Pair 11 40% * Clinical Deterioration 39% ... Stein, B. L., Swords, R., Hochhaus, A. & Giles, F., Nov 2014, In: Leukemia. 28, 11, p. 2139-2147 9 p.. Research output: ... Swords, R., Apostolidou, E. & Giles, F., Oct 2006, In: Hematology. 11, 5-6, p. 321-329 9 p.. Research output: Contribution to ... 1016-1026 11 p.. Research output: Contribution to journal › Review article › peer-review ...
WAGR Syndrome Treatment & Management: Medical Care, Surgical Care, Consultations
Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms tumor locus. Cell. Feb 1990. ... Ton CCT, Hirvonen H, Miwa H. Positional cloning and characterization of a paired box- and homeobox-containing gene from the ... Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. Am J Med Genet A. Mar ... Subject A has a large deletion on chromosome 11 that removes one copy of the BDNF gene. Subject B has a smaller deletion that ...
DeCS
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.. ... A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. ... Chromosomes, Human, Pair 11 - Preferred Concept UI. M0004419. Scope note. ... Chromosomes, Human, Pair 9 [A11.284.187.520.300.325.345] Chromosomes, Human, Pair 9 ...
IMSEAR at SEARO: Partial deletion of the long arm chromosome 11 in Jacobsen syndrome.
Author, Author at flabbergastedly.com - Page 2 of 85
Some human disorders are related to genomic imprinting, a phenomenon in mammals the place the father and mother contribute ... In this case, solely healthy twin pairs had been studied, however a variety of ages was represented, between three and seventy ... usually brought on by abnormalities in maternal genomic imprinting of a region on chromosome 11. ... from this study was that there is an age-dependent accumulation of epigenetic variations between the 2 siblings of dual pairs. ...
The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. I. An autosomal...
When we condition on chromosome 2 at 8.5 cM, the MLS for chromosome 20 increases to 5.50 at 69.0 cM (P=.0014). An ordered- ... We performed a genome scan at an average resolution of 8 cM in 719 Finnish sib pairs with type 2 diabetes. Our strongest ... American Journal of Human Genetics 67:1174-1185.. doi: 10.1016/S0002-9297(07)62948-6 ... Our next largest MLS is for chromosome 11 (MLS = 1.75 at 84.0 cM), followed by chromosomes 2 (MLS = 0.87 at 5.5 cM), 10 (MLS = ...
A genetic epidemiologic study of candidate genes involved in the optic nerve head morphology. - Nuffield Department of...
The only locus significant after correcting for multiple testing is located on chromosome 11p13. Three single nucleotide ... Aged, Aged, 80 and over, Chromosomes, Human, Pair 11, Cohort Studies, Eye Proteins, Female, Genome-Wide Association Study, ... The only locus significant after correcting for multiple testing is located on chromosome 11p13. Three single nucleotide ... Homeodomain Proteins, Humans, Male, Middle Aged, Nerve Tissue Proteins, Netherlands, Optic Disk, PAX6 Transcription Factor, ...
Whole transcriptome RNA-seq analysis: Tumorigenesis and metastasis of melanoma<...
Chromosomes, Human, Pair 9 Medicine & Life Sciences 14% * Chromosomes, Human, Pair 11 Medicine & Life Sciences 13% ... notably on chromosomes 9, 11, 12, and 14, suggesting their involvement in tumorigenesis and metastasis of MM. These genes were ... notably on chromosomes 9, 11, 12, and 14, suggesting their involvement in tumorigenesis and metastasis of MM. These genes were ... notably on chromosomes 9, 11, 12, and 14, suggesting their involvement in tumorigenesis and metastasis of MM. These genes were ...
Bihar Board Class 10 Science Solutions Chapter 9 Heredity and Evolution
There are 23 pairs of chromosomes. Most human chromosomes have maternal and a paternal copy. We have 22 such pairs. These pairs ... There are 23 pairs of chromosomes in the cell of human body. Out of these, 22 pairs do not take part in sex-determination in ... human beings. The 23rd pair in gonadal cell called sex chromosome which is not always a perfect pair. Women have a perfect pair ... Females have a pair of X chromosomes. All children inherit an X chromosome from their ; mother and X or X chromosome from ...
anti-C1orf43 Antikörper (AA 11-100) (Alexa Fluor 350) | Produkt Nr. ABIN1693353
Kaninchen Polyklonal C1orf43 Antikörper AA 11-100 für IF (cc), IF (p). Order anti-C1orf43 Antikörper ABIN1693353. ... The gene encoding C1orf43 maps to human chromosome 1, the largest human chromosome spanning about 260 million base pairs and ... anti-Chromosome 1 Open Reading Frame 43 (C1orf43) (AA 179-228) antibody C1orf43 Reaktivität: Human, Affe WB Wirt: Kaninchen ... anti-Chromosome 1 Open Reading Frame 43 (C1orf43) (Middle Region) antibody C1orf43 Reaktivität: Human WB Wirt: Kaninchen ...
GenesGeneChromosomalAberrationsGeneticsShort arm of chromosome2017MitoticRegions on chromosomeTrisomyCellsProteinsDeletionPhenotypeFluorescenceDisordersAutosomalFragilityMappingGenomicLocusDiploidFemalesAbnormalitiesBacterialProteinRecombinantSegregationSequencing2002MicroscopeCopies1989Linkage analysisAntibodyAutosomesBeingsAdultPopulationMeSHClassificationInversionSpeciesDuplicationCopy number vCellStrongestBovineSuggestsAssayRearrangementDiseaseMaternalProgressionGametesMutationAdjacent
Genes29
- Chromosomes are made up of long strands of DNA, which contain all the body's genes. (medlineplus.gov)
- Humans have 23 pairs of chromosomes which are composed of genes, which are composed of DNA. (lifenews.com)
- Humans have around 20,000 genes on those 23 pairs. (lifenews.com)
- The human life in the womb has exactly the same number of chromosomes and genes as the mother and father and other humans, but in some unique combination of the parents' genes. (lifenews.com)
- The RMDN2 gene locates at the short arm of chromosome 2 between ALK and EML4 genes. (elsevier.com)
- Two genes feline sarcoma oncogene (FES) and paired basic amino acid cleaving enzyme gene (FURIN) were mapped in the genome of the pig. (usda.gov)
- These genes were expected to map to a segment of pig chromosome 7 containing several QTL associated with body composition. (usda.gov)
- Both genes mapped to the pig chromosome 7 within the confidence interval of the body composition QTL. (usda.gov)
- Localizing these genes in the pig genome improves the human-pig comparative map thus facilitating identification of positional candidate genes to study which affect fat deposition. (usda.gov)
- In the human genome, FURIN and FES are located adjacent to one another on the distal q arm of human chromosome 15 (HSA15) in the cytogenetic band q26.1 Genes located in this region are conserved on the proximal q arm of SSC7. (usda.gov)
- In addition, FES and FURIN map within the confidence intervals of several putative QTL for pig fatness traits, and mapping of FES and FURIN to this region improves the human-pig comparative map for HSA15 and SSC7 thus facilitating identification of positional candidate genes. (usda.gov)
- The latter appears substantiated by recent advances in molecular genetics showing a linkage on chromosomes 11, 3, 7, and 4, with identification of the genes for chromosomes 3 and 7. (elsevier.com)
- An ordered-subsets analysis based on families with high or low diabetes-related quantitative traits yielded results that support the possible existence of disease-predisposing genes on chromosomes 6 and 10. (stroudcenter.org)
- Using next-generation sequencing (NGS) technology, we detected asymmetrical expression of genes among the three cell lines, notably on chromosomes 9, 11, 12, and 14, suggesting their involvement in tumorigenesis and metastasis of MM. These genes were clustered into 41 categories based on their expression patterns, and their biological functions were analyzed using Ingenuity Pathway Analysis. (elsevier.com)
- In turn, this must mean the Y chromosome has lost 900-55 active genes over the 166 million years that humans and platypus have been evolving separately. (oniscience.com)
- At this rate, the last 55 genes will be gone in 11 million years . (oniscience.com)
- Kuroiwa's team discovered most of the genes on the Y of spiny rats had been relocated to other chromosomes. (oniscience.com)
- But this can't happen in humans or other mammals because we have at least 30 crucial "imprinted" genes that work only if they come from the father via sperm. (oniscience.com)
- Genes also come in pairs. (isabelsbeautyblog.com)
- Figure 2A shows the signal distribution along the long arm of chromosome 19 and a zoomin to an enriched region containing several ZNF repeat genes. (diagenode.com)
- Figure 3 shows the peak distribution in a genomic regions on chromosome 1 containing several ZNF repeat genes and in a genomic region surrounding the KCNQ1 imprinting control gene on chromosome 11 (figure 3A and B, respectively). (diagenode.com)
- This workflow searches for genes which reside in a QTL (Quantitative Trait Loci) region in Human, Homo sapiens. (myexperiment.org)
- Unlike the rush to sequence the human genome, with the turkey interest is more on annotation - figuring out what genes do and how that can make farmers money - than in accumulating sequences from different individuals. (plos.org)
- Biologist Ann Gauger looked at one of the initially strongest arguments against Adam and Eve from human genetic diversity (HLA genes) and found the evidence is compatible with our descending from an initial couple. (evolutionnews.org)
- The interaction of genes with each other and with environmental factors underlies many aspects of human health and disease. (who.int)
- These conditions are described as genetic diseases because a defect in one or more genes or chromosomes leads to a pathological condition. (who.int)
- Each chromosome has a set of genes. (nsmalondon.com)
- 2) Genes implicated in neuropsychiatric disorders are active in human fetal brain, yet difficult to study in a longitudinal fashion. (jcbose.ac.in)
- The development of linkage disequilibrium (LD) maps is very important for understanding the nature of non-linear association between phenotypes and genes, as LD can be defined as the non-random segregation of a pair of alleles at polymorphic sites. (embrapa.br)
Gene25
- Fragment of the porcine feline sarcoma oncogene (FES) gene and paired basic amino acid cleaving enzyme gene (FURIN) were amplified and terminally sequenced. (usda.gov)
- The FES gene was mapped to chromosome 7 position 82 cM. (usda.gov)
- The sex of human and other mammal babies is decided by a male-determining gene on the Y chromosome. (oniscience.com)
- But the human Y chromosome is degenerating and may disappear in a few million years, leading to our extinction unless we evolve a new sex gene. (oniscience.com)
- But the Y chromosome packs a punch because it contains an all-important gene that kick-starts male development in the embryo. (oniscience.com)
- It works by triggering a genetic pathway starting with a gene called SOX9 which is key for male determination in all vertebrates, although it does not lie on sex chromosomes. (oniscience.com)
- What they discovered was a tiny difference near the key sex gene SOX9, on chromosome 3 of the spiny rat. (oniscience.com)
- The new finding supports an alternative possibility - that humans can evolve a new sex determining gene. (oniscience.com)
- Localization of the gene for Cowden disease to chromosome 10q22-23. (ouhsc.edu)
- Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms tumor locus. (medscape.com)
- The putative polypeptide is 141 amino acids long, identical to that of the α- or ζ-globin, but its predicted amino-acid sequence is nearly as different from the orang-utan α-globin (55 differences) as the human ζ-globin is from the human α-globin (59 differences), suggesting an ancient history for the θ1 -globin gene. (elsevier.com)
- Results of blot hybridization experiments using the cloned orang-utan θ1 gene sequence as probe demonstrate a similar α2-α1-θ1 linkage map existing in the human genome. (elsevier.com)
- Furthermore, multiple copies of sequences homologous to the θ1 gene are detected in both human and orang-utan. (elsevier.com)
- A piece of DNA on a chromosome is called a gene. (isabelsbeautyblog.com)
- Their races, like races in humans, are defined by a superficial characteristic - plumage color - rather than full gene-based ancestry. (plos.org)
- Human gene copy number spectra analysis in congenital heart malformations. (cdc.gov)
- Mutations in the chromosome pairing gene FKBP6 are not a common cause of non-obstructive azoospermia. (cdc.gov)
- 11 SNPs exceeded genome-wide significance with the strongest association with rs12913832 SNP on chromosome 15, mapping to HERC2 gene (p=6.94x10-14). (cdc.gov)
- FANCB is the one exception to FA being autosomal recessive , as this gene is on the X chromosome. (wikipedia.org)
- The first step in dna splicing is to locate a specific gene of interest on a chromosome. (web.app)
- The structural chromosome alterations may arise at the chromosome level (e.g., translocations and gains or losses of large portions of chromosomes) or at the nucleotide level, which influence gene structure or expression such as mutations, insertions, deletions, gene amplifications, and gene silencing by epigenetic effects ( Jefford and Irminger-Finger, 2006 ). (frontiersin.org)
- Chromosome and gene. (nsmalondon.com)
- In support of this idea are the linea that the colorectal tumor suppressor protein DCC has some structural homology to LAR438 and that the LAR gene maps to a linds on chromosome 1p32-33 that is thought e contain a breast cancer tumor sup- pressor gene. (qrforex.com)
- The disrupted in schizophrenia 1 (DISC1) gene locus was originally identified in a Scottish pedigree with a high incidence of psychiatric disorders that is associated with a balanced t(1;11)(q42.1;q14.3) chromosomal translocation. (westminster.ac.uk)
- Seven polymorphic sites in the beta-globin gene cluster were analyzed on a sample of 96 chromosomes of Venezuelan sickle cell patients from the State of Aragua. (embrapa.br)
Chromosomal4
- Many FA patients (about 30%) do not have any of the classic physical findings, but diepoxybutane chromosome fragility assay showing increased chromosomal breaks can make the diagnosis. (wikipedia.org)
- The researchers applied a method called 'Hi-C' (High-throughput Chromosome Conformation Capture) to samples from patients with developmental disorders suspected to be caused by chromosomal rearrangements. (mpg.de)
- The classical analysis of chromosomal defects is done by a karyogram, which is a microscopic view of stained chromosomes. (mpg.de)
- As a major form of genomic instability, chromosomal instability comprises aberrant chromosome numbers (i.e., aneuploidy or polyploidy) and structural changes in chromosomes. (frontiersin.org)
Aberrations1
- Relevant of mutagenicity and clastogenici- angiosarcomas of the liver, which carcinogens discussed in this chap- ty, including the induction of sister are rare tumours, were identified in ter do not include pharmaceutical chromatid exchange (SCE), chro- humans, rats, and mice exposed to drugs classified in Group 1, which mosomal aberrations (CA), and mi- vinyl chloride. (who.int)
Genetics7
- In summary, genetics demonstrates these facts: The unborn child is genetically human and genetically unique, and left to a normal course will grow until birth, grow to walk, to talk and do all the things other humans can do. (lifenews.com)
- American journal of human genetics , 70 (1), 11-19. (elsevier.com)
- 2000. American Journal of Human Genetics 67:1174-1185. (stroudcenter.org)
- Despite of the extraordinary importance that all new knowledge on human genetics will have in dental clinics, little efforts have been made to prepare undergraduates in relation to this new information and technology. (bvsalud.org)
- A team of researchers at the Max Planck Institute for Molecular Genetics and Charité - Universitätsmedizin Berlin led by human geneticists Malte Spielmann and Stefan Mundlos analyzed clinical samples from patients with genetic developmental disorders with the Hi-C method. (mpg.de)
- As the team led by human geneticists Stefan Mundlos and Malte Spielmann describe in the current issue of The American Journal of Human Genetics , a method from basic research could improve clinical diagnostics considerably at some point in the future. (mpg.de)
- Present address: Medical Research Council (MRC) Human Genetics Unit, Edinburgh EH4 2XU, UK. (bioseek.eu)
Short arm of chromosome2
- Genome-wide copy number variants were found in multiple chromosome arms and the short arm of chromosome 2, suggestive of complex rearrangements. (elsevier.com)
- [9] Deletion of part of the short arm of chromosome 5 results in Cri du chat syndrome. (wikipedia.org)
20171
- 2017. 11. (dveyewear.shop)
Mitotic4
- The precise regulation of microtubule length during mitosis is essential to assemble and position the mitotic spindle and segregate chromosomes. (bvsalud.org)
- The purpose of this chapter is describing the basic methods of immunofluorescence analysis of mitotic cells and chromosomes. (bvsalud.org)
- Mitotic cell division requires that kinetochores form microtubule attachments that can segregate chromosomes and control mitotic progression via the spindle assembly checkpoint. (bvsalud.org)
- Rapid degradation of condensin I and condensin II - two essential regulators of mitotic chromosome structure - revealed that both complexes are individually required for cell division in precursor lymphocytes, but not in their differentiated peripheral lymphocyte derivatives. (elifesciences.org)
Regions on chromosome1
- and of agreeableness to 3p25 (rs709160, LOD=3.67) and to two adjacent regions on chromosome 15, including 15q13 (rs970408, LOD=4.07) and 15q14 (rs1055356, LOD=3.52) in the individual scans. (ox.ac.uk)
Trisomy1
- Patient 3 presented as an intrauterine death with trisomy for the majority of chromosome 11p as a result of 3:1 segregation of a maternal t(11;15)(p11.2;q11.2). (nih.gov)
Cells8
- Some human disorders are related to genomic imprinting, a phenomenon in mammals the place the father and mother contribute totally different epigenetic patterns for particular genomic loci in their germ cells. (flabbergastedly.com)
- Automated identification of abnormal metaphase chromosome cells for the detection of chronic myeloid leukemia using microscopic images. (ouhsc.edu)
- ChIP assays were performed using human HeLa cells, the Diagenode antibody against H3K9me3 (cat. (diagenode.com)
- RAR regulates important pathways from the tumor-suppressive ramifications of retinoids in a variety of cells [11]. (euromed2016.com)
- HG consists of 23 pairs of chromosomes existing in all diploid cells of human beings, where DNA is found and all genetic features of an individual is stored 6 . (bvsalud.org)
- 5. In 2001, France and Germany requested the United Nations General Assembly to develop international conventions on human reproductive cloning, therapeutic cloning and research on stem cells. (who.int)
- Organoids from human pluripotent cells can be used to model cerebral cortical development. (jcbose.ac.in)
- As they're looking around, free radicals can damage human cells. (verywellhealth.com)
Proteins4
- These beautiful behaviors of chromosomes observed through the microscope have fascinated people since more than 100 years ago, and now we can sketch the dynamics of regulatory proteins and their posttranscriptional modifications through the fluorescent microscope. (bvsalud.org)
- This strongly suggests functional reasons for the amino acid sequences of human and ape proteins, and shows their similarities can be explained as being due to functional requirements. (evolutionnews.org)
- Previous reports suggest that electrical forces on cell structure proteins interfered with the chromosome separation during mitosis and induced apoptosis. (nature.com)
- the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. (utsouthwestern.edu)
Deletion9
- IMSEAR at SEARO: Partial deletion of the long arm chromosome 11 in Jacobsen syndrome. (who.int)
- Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals. (ouhsc.edu)
- [1] Some chromosomes have fragile spots where breaks occur which result in the deletion of a part of chromosome. (wikipedia.org)
- When a chromosome breaks, a part of it is deleted or lost, the missing piece of chromosome is referred to as deletion or a deficiency. (wikipedia.org)
- For synapsis to occur between a chromosome with a large intercalary deficiency and a normal complete homolog, the unpaired region of the normal homolog must loop out of the linear structure into a deletion or compensation loop . (wikipedia.org)
- Terminal deletion - a deletion that occurs towards the end of a chromosome. (wikipedia.org)
- Intercalary/interstitial deletion - a deletion that occurs from the interior of a chromosome. (wikipedia.org)
- (A) A tumour karyotype in a male with loss of the Y chromosome, (B) Prader-Willi Syndrome i.e. deletion in the 15q11-q12 region and (C) an arbitrary karyotype that involves a variety of autosomal and allosomal abnormalities. (wikipedia.org)
- Deletion of a number of pairs that is not evenly divisible by three will lead to a frameshift mutation , causing all of the codons occurring after the deletion to be read incorrectly during translation , producing a severely altered and potentially nonfunctional protein . (wikipedia.org)
Phenotype1
- Here, we investigated whether members of this family carrying the t(1;11)(q42.1;q14.3) translocation have a common brain-related phenotype and whether this phenotype is similar to that observed in schizophrenia (SCZ), using multivariate pattern recognition techniques. (westminster.ac.uk)
Fluorescence2
Disorders2
- Some medium-sized deletions lead to recognizable human disorders, e.g. (wikipedia.org)
- Some genetic diseases, such as haemophilia, are carried on the X-chromosome (these X-linked disorders occur mainly in men). (who.int)
Autosomal1
- It shows 22 homologous autosomal chromosome pairs as well as both the female (XX) and male (XY) versions of the two sex chromosomes . (wikipedia.org)
Fragility1
- Sister chromatid exchange and chromosome fragility in the nevoid basal cell carcinoma syndrome. (ouhsc.edu)
Mapping2
- Restriction mapping analysis has shown that the structure of this locus in several anthropoid primates is nearly identical to that of the human 11,12 . (elsevier.com)
- The Human Genome Project (HGP) started in the United States of America aiming at sequencing and mapping the human genetic code. (bvsalud.org)
Genomic2
- Beckwith-Wiedemann syndrome is also related to genomic imprinting, usually brought on by abnormalities in maternal genomic imprinting of a region on chromosome 11. (flabbergastedly.com)
- Hypoxia plays an important role in regulating the 11 cancer hallmarks, including metabolic reprogramming, genomic instability, alternative splicing, etc. (frontiersin.org)
Locus2
- The only locus significant after correcting for multiple testing is located on chromosome 11p13. (ox.ac.uk)
- AIMS: An intergenic locus on chromosome 1 (lead SNP rs10911021) was previously associated with coronary heart disease (CHD) in type 2 diabetes (T2D). (bris.ac.uk)
Diploid1
- 27. How many chromosomes are present in human diploid cell? (cbsenews.in)
Females5
- A small duplication (only 17,000 base pairs out of more than 3 billion) was present in all males and no females. (oniscience.com)
- In females, it is perfect with two X-chromosomes. (mercinewyork.com)
- In human beings, the females have two X chromosomes and the males have one X and one Y chromosome. (extraclass.in)
- However, since the females have XX sex chromosomes, their gametes can only have X sex chromosome. (extraclass.in)
- Like all birds, males have two Z chromosomes and females one Z and one W , somewhat the opposite of humans, in whom females are the homogametic sex (XX). (plos.org)
Abnormalities2
- Human karyotype with annotated bands and sub-bands as used for the nomenclature of chromosome abnormalities. (wikipedia.org)
- The International System for Human Cytogenomic Nomenclature (ISCN) is an international standard for human chromosome nomenclature , which includes band names, symbols and abbreviated terms used in the description of human chromosome and chromosome abnormalities. (wikipedia.org)
Bacterial1
- 11. Bacterial cell divides every one minute become double. (cbsenews.in)
Protein3
- To investigate whether sheep infected with scrapie prions could be another source of infection, we inoculated transgenic mice that overexpressed human prion protein with brain tissue from sheep with natural field cases of classical and atypical scrapie, sheep with experimental BSE, and cattle with BSE. (cdc.gov)
- Analysis of protein-coding genetic variation in 60,706 humans. (nsmalondon.com)
- expressed in middle/late meiosis,IV" YDR525W 1 5 7 YDR525W "Ydr525wp,IV" YDR526C 1 5 8 YDR526C "Ydr526cp,IV" YER187W 1 5 9 YER187W "similar to killer toxin,V" YER188W 1 5 10 YER188W "Yer188wp,V" YER190W 1 5 11 YER190W "Yrf1-2p,V" YFL002C 1 5 12 YFL002C "ATP-dependent RNA helicase,VI" YFL002W-B 1 5 13 YFL002W-B "TyA gag protein. (davidson.edu)
Recombinant1
- The commercial introduction of recombinant human growth hormone (rhGH) in 1985 dramatically changed the field of therapy for growth hormone (GH). (medscape.com)
Segregation1
- Together, our work defines the mechanistic basis for a cooperative Kif18b-MCAK-EB network at microtubule plus ends, that acts to efficiently shorten and regulate microtubules in mitosis, essential for correct chromosome segregation. (bvsalud.org)
Sequencing2
- In 2003, the sequencing of almost all human genome (HG) was announced. (bvsalud.org)
- The study of microbial communities from environment- and human-derived samples through Next Generation Sequencing (NGS) methods has revealed a vast complexity in those ecological niches where hundreds or thousands of microbial species co-inhabit and functionally interact. (biomedcentral.com)
20022
- 2002;70(1):11-19. (elsevier.com)
- Download Biocomputing 2002 would be further from the chromosome. (npaarzerquetschte.de)
Microscope1
- A pair of stained chromosomes under the microscope. (mpg.de)
Copies3
- The number of chromosomes and the number of copies varies from one species to another. (lightofevolution.org)
- Humans have 23 pairs of chromosomes, the banana has 11 chromosomes, most often in 3 copies. (lightofevolution.org)
- While all DNA is stained blue, a specific sequence stained pink appears duplicated in one of the two copies of chromosome 17, but not the other. (mpg.de)
19891
- Although atypical scrapie has been discovered retrospectively in 2 UK sheep culled in 1987 and 1989 ( 14 , 15 ), the level and duration of human exposure to atypical scrapie prions are unknown, and this lack of knowledge confounds a cause-and-effect investigation of epidemiologic links between this animal disease and some form of CJD ( 11 ). (cdc.gov)
Linkage analysis1
- This high-bone-mass trait (HBM) was originally localized by linkage analysis to chromosome 11q12-13. (elsevier.com)
Antibody1
- To determine the titer of the antibody, an ELISA was performed using a serial dilution of the antibody directed against human H3K9me3 (cat. (diagenode.com)
Autosomes2
- The male gametes have 22 autosomes and either X or Y sex chromosome. (extraclass.in)
- Today we know the genome is splayed out over 39 pairs of autosomes. (plos.org)
Beings9
- Based on these fundamental concepts, ethical human beings should oppose the intentional death of human beings who have done no wrong. (lifenews.com)
- We naturally hesitate to allow the execution of known guilty persons because they are human beings. (lifenews.com)
- Abortion kills this human being at an early stage of life and should be opposed by ethical human beings. (lifenews.com)
- Out of these, 22 pairs do not take part in sex-determination in human beings. (solutionsclass.com)
- The use of the technique of nuclear transfer for reproduction of human beings is surrounded by strong ethical concerns and controversies and is considered a threat to human dignity. (who.int)
- 2. Over the years, the international community has tried without success to build a consensus on an international convention against the reproductive cloning of human beings. (who.int)
- 3. Creating awareness among ministries of health in the African Region will provide them with critical and relevant information on the reproductive cloning of human beings and its implications to the health status of the general population. (who.int)
- 7. The WHO Regional Committee for Africa is invited to review this document for information and guidance concerning reproductive cloning of human beings. (who.int)
- 3. Media reports on nuclear transfer are usually about one form, reproductive nuclear transfer, also known as reproductive cloning of human beings . (who.int)
Adult2
- A woman is an adult female human. (dveyewear.shop)
- Achievement of final adult height consistent with a child's genetic potential remains the primary therapeutic endpoint for recombinanat human growth hormone (rhGH) therapy in the pediatric population. (medscape.com)
Population4
- Maybe that's because the island's somewhat limited biodiversity offers no natural predators, just a human population that surges in the summer with many folk who aren't used to sharing space with large, wild birds. (plos.org)
- Moreover, when Buggs courteously but reasonably requested that Venema provide a scientific citation for his claim that humans evolved from an ancestral population of ~10,000 individuals rather than a short, sharp bottleneck of two parents (Adam and Eve), Venema was unable to provide such a citation, seriously undermining his arguments on this point. (evolutionnews.org)
- Considering the first growth curve of the Brazilian population with DS, however, the age used was limited to a range of 0-8 years old 11 . (bvsalud.org)
- It has adapted rather well to the increasing human population, and is often found around well-wooded suburbs and even large city parks. (lilliandarnell.com)
MeSH1
- Chromosomes, Human, Pair 4" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (musc.edu)
Classification2
Inversion3
- By clinical cytogenetic testing, we identified a family in which two brothers had ASD, mild intellectual disability and a chromosome 22 pericentric inversion, not detected in either parent, indicating de novo mutation with parental germinal mosaicism. (bmj.com)
- However, at age of eleven , there was a slight inversion of the data because the average stature in girls was higher. (bvsalud.org)
- boys are taller than girls, with a slight inversion at the age of eleven years old. (bvsalud.org)
Species4
- The mole voles of eastern Europe and the spiny rats of Japan each boast some species in which the Y chromosome, and SRY, have completely disappeared. (oniscience.com)
- Although the set of species present in the human oral biofilm is almost fully depicted, new efforts have to be conducted to establish microbial agonistic or antagonistic associations, to distinguish actively-growing bacteria from inactive or transient species, as well as to outline the role of individual species during biofilm formation on tooth surfaces. (biomedcentral.com)
- The co-aggregation detected to occur between streptococci and Actinomyces species has been proposed to be a major promoter of human oral biofilm formation [ 8 ]. (biomedcentral.com)
- The oxygen free radicals ( reactive oxygen species ) are the most important in humans. (verywellhealth.com)
Duplication2
Copy number v1
- The discovery that copy number variants (CNVs) are widespread in the human genome has motivated development of numerous algorithms that attempt to detect CNVs from intensity data. (cdc.gov)
Cell6
- There are 23 pairs of chromosomes in the cell of human body. (solutionsclass.com)
- The 23rd pair in gonadal cell called sex chromosome which is not always a perfect pair. (solutionsclass.com)
- Each cell of an organism contains the same number of chromosomes. (lightofevolution.org)
- Each human has 46 chromosomes located in the nucleus of the cell. (isabelsbeautyblog.com)
- Cell cycle-dependent regulation of chromosome is a dynamic event. (bvsalud.org)
- 1) the ovum contributes one chromosome of each pair to the fertilized cell (2) When a human sperm fertilizes a human ovum , a single cell is created with the potential to grow into a human person. (english-kannada.com)
Strongest1
- Our strongest results are for chromosome 20, where we observe a weighted maximum LOD score (MLS) of 2.15 at map position 69.5 cM from pter and secondary weighted LOD-score peaks of 2.04 at 56.5 cM and 1.99 at 17.5 cM. (stroudcenter.org)
Bovine2
Suggests3
- This suggests the mammal X and Y were an ordinary pair of chromosomes not that long ago. (oniscience.com)
- It also suggests problems in the newborn, since the pairing of the chromosomes are from the same genetic source. (waltermartin.com)
- Two peer-reviewed papers and a book chapter have already been published in the ID-community related to modeling these questions, and early evidence suggests that an initial pair is capable of explaining human genetic diversity. (evolutionnews.org)
Assay1
- To check this hypothesis, we evaluated the appearance of aswell as miR-146a-5p and miR-146b-5p in 48 PTC tumor/regular tissues pairs by Taqman assay to reveal which the appearance of was 3.28-fold reduced, and miR-146b-5p was 28.9-fold improved in PTC tumors. (euromed2016.com)
Rearrangement1
- We hypothesised that the rearrangement was causative of their ASD and localised the chromosome 22 breakpoints. (bmj.com)
Disease7
- These data are consistent with the conclusion that prion disease is less likely to develop in humans after exposure to naturally occurring prions of sheep than after exposure to epizootic BSE prions of ruminants. (cdc.gov)
- The BSE prion is an epizootic agent and causes variant Creutzfeldt-Jakob disease (vCJD) in humans after dietary exposure ( 1 - 4 ). (cdc.gov)
- This increase has rekindled speculation that atypical scrapie in small ruminants might be a source of human prion disease ( 11 ). (cdc.gov)
- One approach involves the experimental transmission of disease by inoculating homogenized brain tissue from affected animals into transgenic mice that are overexpressing 1 of the 2 common polymorphic forms of the human PrP (either methionine or valine at residue 129) on a mouse PrP null background ( 16 ). (cdc.gov)
- Understanding Genetic and Environmental Causes of Human Disease A recent article in the Archives of General Psychiatry by Hallmayer et al. (cdc.gov)
- This part was duplicated and inserted in another part of the same chromosome, which leads to disease. (mpg.de)
- median 34 months) showed 4 patients dead of disease (10.5, 12, 25 and 64 months after diagnosis), 1 patient alive with extensive metastases (43 months after diagnosis), 1 patient alive with persistent local disease (11 months after diagnosis), and 4 alive without disease (10, 47, 53 and 70 months after diagnosis). (bvsalud.org)
Maternal1
- Patient 2 is a 4-year-old female with a derived chromosome 20, which arose from adjacent 1 malsegregation of a maternal t(11;20)(p15.3;q13.33). (nih.gov)
Progression3
- Left to a normal progression, it is a human child who is born. (lifenews.com)
- Progression tends to be slow, and wheelchair use begins 11-28 years after the onset of symptoms. (medscape.com)
- After it was shown that TTFields improved the progression-free survival and the overall survival, TTFields were approved by the Food and Drug Administration (FDA) for treatment of diagnosed high grade glioma 10 , 11 . (nature.com)
Gametes2
- The gametes, as we know, receive half of the chromosomes. (extraclass.in)
- There are no individuals that produce intermediate forms of gametes who can be the basis of a third reproductive class of humans. (whyevolutionistrue.com)
Mutation1
- Δ ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication. (wikipedia.org)
Adjacent1
- In the human genome, FURIN and FES are located adjacent to one another on human chromosome 15q26. (usda.gov)