Chromosome 17

Human male karyotpe high resolution - Chromosome 17 cropped

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.

Genetic Characteristics

Identifying the genes on each chromosome is an active area of genetic research because researchers use different approaches to predict the number of genes on each chromosome. Chromosome 17 is known to contain between 1,500 and 2,000 genes that are involved in vital cellular functions, including cell cycle regulation, metabolism, and the immune response.

Notable Genes

Among the most important genes located on Chromosome 17 are the BRCA1 gene, which is associated with a higher risk of breast and ovarian cancers, and the TP53 gene, which encodes a protein that suppresses tumors by regulating cell division. Mutations in TP53 are found in half of all cancers, making it a focal point of cancer research.

Health Implications

Alterations in the number or structure of Chromosome 17 can result in disease. For example, Neurofibromatosis type 1, which causes tumors to form in the brain, skin, and nerves, is caused by mutations in a gene on Chromosome 17. Additionally, Smith-Magenis syndrome, characterized by developmental delay, physical abnormalities, and sleep disturbances, is caused by a deletion of a small piece of Chromosome 17.

Research and Technology

The mapping and sequencing of Chromosome 17 have provided researchers with crucial insights into its structure and function. This knowledge has paved the way for advances in genetic testing, allowing for the early detection of diseases associated with mutations in genes located on Chromosome 17.

See Also

• Genetics
• Human genome
• Gene
• DNA