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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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Journal ArticleDOI
TL;DR: The gene locus for human cytoplasmic superoxide dismutase (SOD-1; superoxide:superoxide oxidoreductase, EC 1.15.1.1) is located in or near a region of chromosome 21 known to be involved in Down syndrome, and a cDNA clone is constructed to approach the molecular biology of this genetic disease.
Abstract: The gene locus for human cytoplasmic superoxide dismutase (SOD-1; superoxide:superoxide oxidoreductase, EC 1.15.1.1) is located in or near a region of chromosome 21 known to be involved in Down syndrome. To approach the molecular biology of this genetic disease we have constructed a SOD-1 cDNA clone. Poly(A)-containing RNA enriched for human SOD-1 mRNA was isolated, used to synthesize double-stranded cDNA, and inserted into the endonuclease Pst I site of the plasmid pBR322. The chimeric molecules were used to transform Escherichia coli. Two clones containing SOD-1 cDNA inserts were identified by their ability to hybridize specifically with mRNA coding for SOD-1. Each of these clones carries a 650-base-pair insert, as was determined by restriction enzyme digestion and electron microscopic heteroduplex analysis. Hybridization of labeled cloned cDNA to RNA blots revealed two distinct SOD-1 mRNA classes of 500 and 700 nucleotides. The data suggest that both are polyadenylylated and are coded by chromosome 21.

97 citations

Journal ArticleDOI
TL;DR: The neuropathological findings have been consistent with a diagnosis of definite AD according to the Consortium to Establish a Registry for Alzheimer’s Disease (CERAD), and detailed clinical features of a four generation Finnish family are described.
Abstract: Missense mutations in the genes encoding amyloid precursor protein (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2) have been found to cause some forms of autosomal dominant early onset Alzheimer disease (AD). Autosomal dominant point mutations in the APP gene are associated with β-amyloid peptide related cerebral amyloid angiopathy (CAA) and AD.1 Duplications of the APP locus on chromosome 21 have recently been reported to be associated with a phenotype similar to that caused by point mutations in the APP gene, including progressive AD and strokes and intracerebral haemorrhage (ICH) of variable frequency.2–4 The neuropathological findings have been consistent with a diagnosis of definite AD according to the Consortium to Establish a Registry for Alzheimer’s Disease (CERAD). The most prominent feature in all cases has been severe CAA in the leptomeningeal vessels together with superficial and deep intraparenchymatous small arteries, capillaries and venules. Figure 1 Detection of amyloid precursor protein (APP) duplication by quantitative multiplex PCR of short fluorescent fragments (QMPSF). The electropherogram of the affected subject (in red) was superimposed on that of a normal individual (in blue) by adjusting the peaks obtained from the control amplicon PCBD2 located on chromosome 5 to the same level. The vertical axis shows fluorescence in arbitrary units and the horizontal axis indicates the size of the amplicons in base pairs. Arrows indicate heterozygous duplication of the amplicons, as detected by a 1.5 fold heightening of the corresponding peaks. This QMPSF covers four genes located at 21q21: MRPL39 , GABPA , APP and CYYR1 . We have previously described detailed clinical features of a four generation Finnish family, including 14 …

97 citations

Journal ArticleDOI
TL;DR: The utility of high-density oligonucleotide arrays are described as a rapid approach for comparing human sequences with the DNA of multiple species whose sequences are not presently available.
Abstract: Comparison of human sequences with the DNA of other mammals is an excellent means of identifying functional elements in the human genome. Here we describe the utility of high-density oligonucleotide arrays as a rapid approach for comparing human sequences with the DNA of multiple species whose sequences are not presently available. High-density arrays representing approximately 22.5 Mb of nonrepetitive human chromosome 21 sequence were synthesized and then hybridized with mouse and dog DNA to identify sequences conserved between humans and mice (human-mouse elements) and between humans and dogs (human-dog elements). Our data show that sequence comparison of multiple species provides a powerful empiric method for identifying actively conserved elements in the human genome. A large fraction of these evolutionarily conserved elements are present in regions on chromosome 21 that do not encode known genes.

97 citations

Journal ArticleDOI
TL;DR: The occurrence of two distinct functional protooncogenes and their conservation of linkage positions in the three mammalian orders indicate that these two genes have been separate since before the evolutionary divergence of mammals.
Abstract: The mammalian protooncogene homologue of the avian v-ets sequence from the E26 retrovirus consists of two sequentially distinct domains located on different chromosomes. Using somatic cell hybrid panels, we have mapped the mammalian homologue of the 5' v-ets-domain to chromosome 11 (ETS1) in man, to chromosome 9 (Ets-1) in mouse, and to chromosome D1 (ETS1) in the domestic cat. The mammalian homologue of the 3' v-ets domain was similarly mapped to human chromosome 21 (ETS2), to mouse chromosome 16 (Ets-2), and to feline chromosome C2 (ETS2). Both protooncogenes fell in syntenic groups of homologous linked loci that were conserved among the three species. The occurrence of two distinct functional protooncogenes and their conservation of linkage positions in the three mammalian orders indicate that these two genes have been separate since before the evolutionary divergence of mammals.

96 citations

Journal ArticleDOI
01 Feb 1997-Genomics
TL;DR: The results demonstrate that the reshuffling of the muntjac karyotype is mostly due to fusions of huge blocks of entire chromosomes, which is in accordance with previous chromosome painting analyses between various Muntjac species and contrasts the findings for some other mammals that show exceptional chromosome reshufflers.

96 citations


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Performance
Metrics
No. of papers in the topic in previous years
YearPapers
202320
202259
202147
202061
201943
201858