Chromosome 8 (human)

Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 spans about 146 million base pairs (the building blocks of DNA) and represents between 4.5 and 5.0% of the total DNA in cells.

Structure

The structure of chromosome 8 is characterized by its length and the specific genes it contains. Like other chromosomes, it has a short arm designated as "p" and a long arm designated as "q". The centromere, which is the point where the two arms connect, divides the chromosome into these two sections. The p arm is shorter than the q arm and contains fewer genes compared to the q arm.

Genes

Chromosome 8 contains about 700 to 1,000 genes that are involved in various bodily functions and processes. Some of the notable genes on chromosome 8 include:

• FGFR1 - This gene plays a critical role in cell division, cell growth, and maturation.
• LPL - Involved in the breakdown of fats and lipids within the body.
• MYC - An oncogene that can transform a cell into a cancer cell under certain conditions.
• OCA2 - This gene is involved in the pigmentation of the skin, hair, and eyes.

Genetic Disorders

Alterations in the structure or number of copies of chromosome 8 can lead to various genetic disorders or contribute to the development of certain diseases. Some of these include:

• Wolfram Syndrome - A rare genetic disorder that can cause diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
• Langer-Giedion Syndrome - A condition characterized by bone abnormalities, distinctive facial features, and intellectual disability.
• Burkitt's Lymphoma - A type of non-Hodgkin's lymphoma in which cancer starts in immune cells called B-cells. It is associated with changes in the MYC gene on chromosome 8.
• Trisomy 8 - A condition where there are three copies of chromosome 8 in each cell instead of the normal two. It can cause various physical abnormalities and intellectual disabilities.

Research

Research on chromosome 8 continues to uncover its complexities and the roles its genes play in health and disease. Studies focus on understanding the genetic basis of diseases associated with this chromosome and developing therapies to treat them.