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Concept
Chromosome 21
Summary
Chromosome 21 is one of the 23 pairs of chromosomes in humans. Chromosome 21 is both the smallest human autosome and chromosome, with 45 million base pairs (the building material of DNA) representing about 1.5 percent of the total DNA in cells. Most people have two copies of chromosome 21, while those with three copies of chromosome 21 have Down syndrome, also called "trisomy 21".
Researchers working on the Human Genome Project announced in May 2000 that they had determined the sequence of base pairs that make up this chromosome. Chromosome 21 was the second human chromosome to be fully sequenced, after chromosome 22.
The following are some of the gene count estimates of human chromosome 21. Because researchers use different approaches to genome annotation, their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (CCDS) takes an extremely conservative strategy. Thus CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.
Genes on human chromosome 21
The following is a partial list of genes on human chromosome 21. For complete list, see the link in the infobox on the right.
The following diseases and disorders are some of those related to genes on chromosome 21:
Alzheimer's disease
Amyotrophic lateral sclerosis
Atrial fibrillation, familial
Autoimmune polyendocrine syndrome
Basal ganglia calcification
Bethlem myopathy
Closed angle glaucoma
Cataract
Down syndrome
Erondu–Cymet syndrome
Holocarboxylase synthetase deficiency
Homocystinuria
Hyperhomocysteinemia
Hypotrichosis
Immunodeficiency
Inflammatory bowel disease
Intellectual developmental disorder
Jervell and Lange-Nielsen syndrome
Keppen–Lubinsky syndrome
Leukocyte adhesion deficiency-1
Majewski osteodysplastic primordial dwarfism type II (MOPD II, or MOPD2)
Non-small cell lung carcinoma
Nonsyndromic deafness
Peripheral neuropathy
Primary ciliary dyskinesia
Romano–Ward syndrome
Ullrich congenital muscular dystrophy
Unverricht–Lundborg disease, a form of progressive myoclonus epilepsy
The following conditions are caused by changes in the structure or number of copies of chromosome 21:
Cancers: Rearrangements (translocations) of genetic material between chromosome 21 and other chromosomes have been associated with several types of cancer.
Official source
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