Chromosome 16 (human)

Chromosome 16 is one of 23 pairs of chromosomes in humans. A normal person has two nearly identical copies of this chromosome in most of its cells.

Decryption of chromosome 16

The chromosome 16 consists of 88.8 million base pairs. A base pair is the smallest information unit of DNA. Chromosome 16 contains about 3 % of the total DNA of a human cell. The identification of the genes on this chromosome is the part of the ongoing process of the human genome. On chromosome 16 are 850-1200 genes. So far, 902 of them are known.

Known genes on chromosome 16

The chromosome 16 contains the following genes:

  • CADH1: cadherin
  • CX3C: chemokine
  • MC1R: melanocortin receptor 1
  • PKD1: Polycystic Kidney Disease 1
  • UMOD: Uromodulin
  • NFAT5: Toni City - Responsive Enhancer Binding Protein
  • TPSxx: all tryptases

Medical importance

With the genes located on chromosome 16, the following genetic diseases or symptoms are associated. These include:

  • Autosomal dominant polycystic kidney disease ( ADPKD )
  • Familial Mediterranean fever
  • Fanconi Anemia
  • Gitelman syndrome
  • Medullary cystic kidney disease type 2
  • Morquio's disease
  • Neuroacanthocytosis (type Huntington 's Disease -like 2 )
  • Pseudoxanthoma elasticum
  • Rubinstein - Taybi syndrome
  • Townes - Brocks syndrome
  • Trisomy 16
  • Tuberous sclerosis

Red Hair Color

About two percent of the population have their - thanks to red hairs of a mutation on chromosome 16 - by nature. Mutation affects the melanocortin 1 This is a G- protein coupled receptor which is expressed in melanocytes.

Morquio syndrome Townes–Brocks syndrome Barbara Meier
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