Chromosome 6 (human)

Chromosome 6 (human) is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 6 spans more than 170 million base pairs (the building material of DNA) and represents between 5.5 and 6% of the total DNA in cells.

Structure

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to genome annotation, the exact number of genes on each chromosome varies. Chromosome 6 is known to contain around 1,000 to 1,100 genes. These genes are involved in a wide range of critical biological functions, including the immune system, development, and metabolism.

Genetic Disorders

Several important genetic disorders are linked to genes on chromosome 6. These include:

• Autoimmune diseases such as rheumatoid arthritis, which has been linked to the HLA (human leukocyte antigen) region on chromosome 6. The HLA region plays a crucial role in the immune system by helping the body distinguish its own proteins from proteins made by foreign invaders such as viruses and bacteria.
• Huntington's disease-like 2 (HDL2), which is a rare neurodegenerative disorder. Although most cases of Huntington's disease are due to mutations on chromosome 4, a similar condition called HDL2 arises from mutations on chromosome 6.
• Hemochromatosis, a condition that causes the body to absorb too much iron from the diet. The HFE gene, located on chromosome 6, is involved in iron metabolism, and mutations in this gene can lead to hemochromatosis.

Research

Research on chromosome 6 has led to significant discoveries in genetics and medicine. For example, the mapping of the HLA region has not only provided insights into autoimmune diseases but also has been crucial for organ transplantation, as matching HLA types between donor and recipient can reduce the risk of rejection.

See Also

• Genetics
• Human genome
• Chromosomal abnormalities