Chromosome 15
Chromosome 15 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 15 spans about 102 million base pairs (the building material of DNA) and represents between 3% and 3.5% of the total DNA in cells.
Genes[edit | edit source]
Chromosome 15 contains about 700-900 genes. Some of the genes on chromosome 15 include:
- FBN1: This gene provides instructions for making a protein called fibrillin-1. Fibrillin-1 is a major component of microfibrils, which provide strength and flexibility to connective tissue.
- OCA2: This gene provides instructions for making a protein located in the melanosome, an organelle where melanin is produced. Melanin is the pigment that gives color to the skin, hair, and eyes.
Diseases and disorders[edit | edit source]
Several diseases and disorders are related to genes on chromosome 15. These include:
- Marfan syndrome: This is a disorder of the connective tissue, caused by mutations in the FBN1 gene.
- Prader-Willi syndrome and Angelman syndrome: These are distinct disorders that are caused by a loss of function of genes in a specific region of chromosome 15. The loss of different genes leads to Prader-Willi syndrome if it is inherited from the father and Angelman syndrome if it is inherited from the mother.
Research[edit | edit source]
Research is ongoing to find links between the genes on chromosome 15 and diseases. For example, the OCA2 gene has been linked to eye color, and researchers are studying its potential role in skin cancer.
See also[edit | edit source]
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Contributors: Prab R. Tumpati, MD
