Chromosome 11 (human)

Chromosome 11 (human) is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 11 spans about 135 million base pairs (the building blocks of DNA) and represents between 4 and 4.5 percent of the total DNA in cells.

Structure

Chromosome 11, like all human chromosomes, consists of two arms, labeled p (short arm) and q (long arm). The centromere, which divides the chromosome into its p and q arms, is positioned closer to the p arm, making it a submetacentric chromosome. The p arm is shorter than the q arm and contains many genes that are crucial for proper development and function.

Genes

Chromosome 11 contains over 1,300 genes. These genes are involved in a wide range of bodily functions and developmental processes. Some of the notable genes on chromosome 11 include:

• HBB: Part of the beta globin gene cluster, mutations in this gene are associated with sickle cell anemia and beta-thalassemia.
• MEN1: This gene is involved in multiple endocrine neoplasia type 1, a disorder that affects the endocrine glands.
• PAX6: An important gene for eye and brain development. Mutations can lead to various eye conditions, including aniridia.
• WT1: Associated with Wilms' tumor, a kidney cancer in children.

Genetic Disorders

Several genetic disorders are linked to mutations in genes on chromosome 11. These include:

• Sickle cell anemia: Caused by a mutation in the HBB gene, affecting the shape and function of red blood cells.
• Beta-thalassemia: Also related to mutations in the HBB gene, this condition affects the production of hemoglobin.
• Multiple endocrine neoplasia type 1 (MEN1): A syndrome that leads to tumors in endocrine glands.
• Wilms' tumor: A pediatric kidney cancer associated with mutations in the WT1 gene.
• Aniridia: A severe eye disorder caused by mutations in the PAX6 gene.

Research

Research on chromosome 11 continues to uncover its complexities and the roles its genes play in health and disease. Studies have focused on understanding the genetic basis of the disorders associated with chromosome 11, as well as exploring potential therapeutic interventions.

See Also

• Genetics
• Human genome
• Chromosomal abnormalities