Human chromosome 17

Human chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 17 spans about 83 million base pairs (the building blocks of DNA) and represents between 2.5 and 3% of the total DNA in cells.

Structure

Chromosome 17 is characterized by its structure, which includes a short arm (p arm) and a long arm (q arm), separated by a centromere. The p arm is shorter than the q arm and contains many genes that are crucial for cellular function.

Genes

Approximately 1,200 to 1,500 genes are located on chromosome 17, some of which are associated with genetic disorders and diseases. Notable genes on chromosome 17 include:

• BRCA1: Associated with a higher risk of breast cancer and ovarian cancer.
• TP53: Known as the "guardian of the genome," this gene is crucial for regulating cell division and preventing cancer.
• NF1: Associated with Neurofibromatosis type I, a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body.

Genetic Disorders

Several genetic disorders are linked to mutations in genes on chromosome 17, including:

• Breast cancer: Mutations in the BRCA1 gene.
• Charcot-Marie-Tooth disease: A group of inherited disorders that affect the peripheral nerves.
• Neurofibromatosis type I: A condition that causes tumors to form in the nervous system.

Research

Research on chromosome 17 has been extensive, particularly in the context of cancer genetics. Studies have focused on understanding how mutations in the TP53 gene contribute to various forms of cancer and how these mutations can be targeted for cancer therapy.

See also

• Genetics
• Human genome
• Chromosome
• Gene
• DNA

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