Chromosome 2
Chromosome 2 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 2 is the second largest human chromosome, spanning more than 242 million base pairs and representing almost 8% of the total DNA in cells.
Structure[edit | edit source]
Chromosome 2 is likely a result of an end-to-end fusion of two ancestral chromosomes. The evidence for this includes:
- The correspondence of chromosome 2 to two ape chromosomes. The closest human relative, the bonobo, has near-identical DNA sequences to human chromosome 2, but they are found in two separate chromosomes. The same is true of the more distant gorilla and orangutan.
- The presence of a vestigial centromere. Normally a chromosome has just one active centromere, but in chromosome 2 there are remnants of a second centromere.
- The presence of vestigial telomeres. These are normally found only at the ends of a chromosome, but in chromosome 2 there are additional telomere sequences in the middle.
Genes[edit | edit source]
Chromosome 2 contains over 1,400 genes, which code for various proteins and molecules in the body. Some of the genes on this chromosome include:
- ALMS1: This gene is associated with Alström syndrome.
- COL3A1: This gene codes for type III collagen, which is found in extensible connective tissues such as skin, lung, and the vascular system.
- COL5A2: This gene codes for type V collagen, which is found in tissues containing type I collagen and appears to regulate the assembly of the fibrils.
Diseases and disorders[edit | edit source]
Several diseases and disorders are associated with genes on chromosome 2, including:
- Alström syndrome
- Ehlers-Danlos syndrome
- Mucolipidosis
- Harlequin type ichthyosis
- Lactose intolerance
- Parkinson's disease
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD