Topic
Chromosome 21
About: Chromosome 21 is a research topic. Over the lifetime, 4736 publications have been published within this topic receiving 206655 citations. The topic is also known as: chr21 & Homo sapiens chromosome 21.
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TL;DR: Using a DNA probe that is specific for the complete gene (c-myc), different somatic cell hybrids possessing varying numbers of human chromosomes were analyzed by the Southern blotting technique and results indicate that the human c- myc gene is located on chromosome 8.
Abstract: Human sequences related to the transforming gene (v-myc) of avian myelocytomatosis virus (MC29) are represented by at least one gene and several related sequences that may represent pseudogenes. By using a DNA probe that is specific for the complete gene (c-myc), different somatic cell hybrids possessing varying numbers of human chromosomes were analyzed by the Southern blotting technique. The results indicate that the human c-myc gene is located on chromosome 8. The analysis of hybrids between rodent cells and human Burkitt lymphoma cells, which carry a reciprocal translocation between chromosomes 8 and 14, allowed the mapping of the human c-myc gene on region (q24 leads to qter) of chromosome 8. This chromosomal region is translocated to either human chromosome 2, 14, or 22 in Burkitt lymphoma cells.
1,632 citations
TL;DR: In this article, the authors reported the sequence and gene catalogue of the long arm of chromosome 21 and sequenced 33,546,361 base pairs (bp) of DNA with very high accuracy, the largest contig being 25,491,867 bp.
Abstract: Chromosome 21 is the smallest human autosome. An extra copy of chromosome 21 causes Down syndrome, the most frequent genetic cause of significant mental retardation, which affects up to 1 in 700 live births. Several anonymous loci for monogenic disorders and predispositions for common complex disorders have also been mapped to this chromosome, and loss of heterozygosity has been observed in regions associated with solid tumours. Here we report the sequence and gene catalogue of the long arm of chromosome 21. We have sequenced 33,546,361 base pairs (bp) of DNA with very high accuracy, the largest contig being 25,491,867 bp. Only three small clone gaps and seven sequencing gaps remain, comprising about 100 kilobases. Thus, we achieved 99.7% coverage of 21q. We also sequenced 281,116 bp from the short arm. The structural features identified include duplications that are probably involved in chromosomal abnormalities and repeat structures in the telomeric and pericentromeric regions. Analysis of the chromosome revealed 127 known genes, 98 predicted genes and 59 pseudogenes.
1,404 citations
TL;DR: Polygenic inheritance is indicated, with a major locus at the major histocompatibility complex of type 1 diabetes mellitus found in IDDM1 and IDDM2, and chromosome 18 may encode a fifth disease locus.
Abstract: We have searched the human genome for genes that predispose to type 1 (insulin-dependent) diabetes mellitus using semi-automated fluorescence-based technology and linkage analysis. In addition to IDDM1 (in the major histocompatibility complex on chromosome 6p21) and IDDM2 (in the insulin gene region on chromosome 11p15), eighteen different chromosome regions showed some positive evidence of linkage to disease. Linkages to chromosomes 11q (IDDM4) and 6q (IDDM5) were confirmed by replication, and chromosome 18 may encode a fifth disease locus. There are probably no genes with large effects aside from IDDM1. Therefore polygenic inheritance is indicated, with a major locus at the major histocompatibility complex.
1,326 citations
TL;DR: Correlation with phenotype and other known Y chromosome markers establish that the Y-chromosome-specific reiterated DNA discussed here has no evident role in male determination.
Abstract: A number of individuals with aberrant Y chromosomes have been tested for the presence of Y-chromosome-specific reiterated DNA. These studies locate Y-chromosome-specific reiterated sequences on the long arm of the Y chromosome. Correlation with phenotype and other known Y chromosome markers establish that the Y-chromosome-specific reiterated DNA discussed here has no evident role in male determination.
1,206 citations
01 Jan 2016
TL;DR: A number of individuals with aberrant Y chromosomes have been tested for the presence of Y-chromo-some-specific reiterated DNA as discussed by the authors, which represents at least 10% of Y chromosome DNA.
Abstract: A number of individuals with aberrant Y chromosomes have been tested for the presence of Y-chromo- some-specific reiterated DNA. These studies locate Y-chromo- some-specific reiterated sequences on the long arm of the Y chromosome. Correlation with phenotype and other known Y chromosome markers establish that the Y-chromosome-specific reiterated DNA discussed here has no evident role in male de- termination. Among all the examples of genetic regulation in mammals, the essential role of the Y chromosome in primary sex determina- tion is possibly the best known but the least well understood (1, 2). Until recently, there existed no genetic markers for the Y chromosome and thus no way to correlate chromosome struc- ture with male function. This situation is now changing with the discovery of two distinctive cytological characteristics on the human Y chromosome (3, 4) and the recognition that a locus for a male histocompatibility antigen is Y-linked (5, 6). We have recently identified reiterated DNA sequences specific for the human Y chromosome (7). These sequences represent at least 10% of Y chromosome DNA. They are used here for the initial stages of a correlative structure-function study of the human Y chromosome. We show that this partic- ular group of human Y-chromosome-specific reiterated DNA is probably limited to the long arm of that chromosome. While we establish that these sequences play no evident role in dic- tating maleness, our approach--when adapted to other Y chromosome sequences-may lead not only to a further un- derstanding of the molecular origins of sexual differences, but also to a test of the putative regulatory function (8, 9) of re- iterated DNA.
1,193 citations