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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
01 Nov 1998-Diabetes
TL;DR: Linkage on chromosome 2 is evaluated of 34 microsatellite markers and an interleukin-1 (IL-1) Taq I polymorphism in 352 U.K. families of type 1 diabetes by multipoint analysis using Mapmaker/Sibs.
Abstract: In the spontaneous mouse model of type 1 diabetes, the nonobese (NOD) strain, a type 1 diabetes locus, Idd5 , has been mapped to chromosome 1. Because mouse chromosome 1 shares a homologous 33-cM region between the genes col3a1 and col6a3 with human chromosome 2q31–q35 (data shown at http://www.ncbi.nlm.nih.gov/Omim/Homology/), several groups have searched chromosome 2 for loci affecting human type 1 diabetes. Previous studies have provided evidence for at least three type 1 diabetes loci ( IDDM7 , IDDM12 , and IDDM13 ) within a 23-cM region of chromosome 2q31–q35. We have now evaluated linkage on chromosome 2, by multipoint analysis using Mapmaker/Sibs, of 34 microsatellite markers and an interleukin-1 (IL-1) Taq I polymorphism in 352 U.K. families.

74 citations

Journal ArticleDOI
TL;DR: It is proposed that Ts21 gene dosage over-expression of Hsa21-derived miRNAs in DS individuals result in the decreased expression of specific target proteins (i.e. haploinsufficiency) that contribute, in part, to the DS phenotype.
Abstract: Down syndrome (DS) or Trisomy 21 (Ts21) is caused by the presence of an extra copy of all or part of human chromosome 21 (Hsa21) and is the most frequent survivable congenital chromosomal abnormality. Bioinformatic annotation has established that Hsa21 harbors more than 400 genes, including five microRNA (miRNA) genes (miR-99a, let-7c, miR-125b-2, miR-155, and miR-802). MiRNAs are endogenous, single-stranded, small non-coding RNA molecules that regulate gene expression by interacting with specific recognition elements harbored within the 3'-untranslated region (3'-UTR) of mRNAs and subsequently target these mRNAs for translational repression or destabilization. MiRNA expression profiling, miRNA RT-PCR, and miRNA in situ hybridization experiments have demonstrated that Hsa21-derived miRNAs were over-expressed in fetal brain and heart specimens isolated from individuals with DS. We now propose that Ts21 gene dosage over-expression of Hsa21-derived miRNAs in DS individuals result in the decreased expression of specific target proteins (i.e. haploinsufficiency) that contribute, in part, to the DS phenotype.

74 citations

Journal ArticleDOI
01 Mar 1985-Science
TL;DR: Analysis of DNA from human embryo fibroblasts showed that ten Eco RI fragments were hybridizable with the Yamaguchi sarcoma virus oncogene (v-yes), and there was evidence for multiple copies of yes-related genes in the human genome.
Abstract: Analysis of DNA from human embryo fibroblasts showed that ten Eco RI fragments were hybridizable with the Yamaguchi sarcoma virus oncogene (v-yes). Four of the Eco RI fragments were assigned to chromosome 18 and one to chromosome 6. There was evidence for multiple copies of yes-related genes in the human genome; however, only a single RNA species, 4.8 kilobases in length, was related to yes in various cells.

74 citations

Journal ArticleDOI
TL;DR: It is postulate that abnormalities in the coordinated expression, as well as interaction of proteins may be responsible for the neuropathology of DS.
Abstract: Down syndrome (DS) is the most common chromosomal abnormality associated with early mental retardation and neurological abnormalities followed by precocious age dependent Alzheimer-type neurode generation later in life. Knowledge of the pathological mechanisms involved in DS is far from complete, but overexpression of genes residing in chromosome 21 was considered to be the central point for the DS phenotype. In this regard, beta amyloid precursor protein (APP), CuZn superoxide dismutase (SOD1) and S100beta have been implicated in causing apoptosis, a mechanism thought to be responsible for neuronal loss in DS, in one way or another. The gene dosage hypothesis has been challenged, however, and dysregulation of expression of genes located on other chromosomes has been described, which may well be secondary to chromosomal imbalance or a direct consequence of the disease process. The present review focuses on the protein expression profile in DS and we postulate that abnormalities in the coordinated expression, as well as interaction of proteins may be responsible for the neuropathology of DS. A series of candidate proteins are discussed that may be directly causing or reflecting the DS phenotype, in particular the brain abnormalities in DS.

74 citations

Journal ArticleDOI
TL;DR: Using in situ hybridization techniques, it is determined that the amplified c-abl and C lambda DNA sequences of K562 cells are both located on the same abnormal acrocentric marker chromosome, which may represent an altered Philadelphia chromosome.
Abstract: The human leukemia cell line K562, derived from a patient with Philadelphia chromosome-positive chronic myelogenous leukemia, contains amplified c-abl oncogenes and unrearranged C lambda genes. Using in situ hybridization techniques, we have determined that the amplified c-abl and C lambda DNA sequences of K562 cells are both located on the same abnormal acrocentric marker chromosome, which may represent an altered Philadelphia chromosome.

74 citations


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