Chromosome 16 (human)

Human chromosome 16 idiogram

Chromosome 16 is one of 23 chromosomes pairs of people . A normal person has two largely identical copies of this chromosome in most of his cells .

Decoding the chromosome 16

Chromosome 16 consists of 88.8 million base pairs . A base pair is the smallest unit of information in DNA . Chromosome 16 contains about 3% of the total DNA of a human cell . Identifying the genes on this chromosome is part of an ongoing process of deciphering the human genome. There are between 850 and 1200 genes on chromosome 16. So far 902 of them are known.

Known genes on chromosome 16

Chromosome 16 contains the following genes, among others:

• CADH1 : Cadherin
• CX3C : chemokine
• MC1R : melanocortin receptor 1
• PKD1 : Polycystic Kidney Disease 1
• UMOD : uromodulin
• NFAT5 : Tonicity-Responsive Enhancer Binding Protein
• TPSxx : all tryptases

Medical importance

The 46 human chromosomes.

The genes on chromosome 16 have been linked to the following genetic diseases or symptoms . These are among others:

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

Red hair color

Red hair, here Barbara Meier's , is the result of a mutation on chromosome 16

About two percent of the population owes their naturally red hair to a mutation on chromosome 16. The mutation affects the melanocortin receptor 1. This is a G-protein-coupled receptor that is expressed in melanocytes .

Individual evidence

1. ↑ Genetics Home Reference, Chromosome 16 , as of February 29, 2008
2. ↑ ensembl.org, Chromosome 16 , accessed March 18, 2008
3. ↑ Genetics Home Reference, Conditions related to genes on chromosome 16. , As of February 29, 2008

literature

• J. Martin et al: The sequence and analysis of duplication-rich human chromosome 16. In: Nature , 432/2004, pp. 988-94. PMID 15616553
• F. Gilbert: Disease genes and chromosomes: disease maps of the human genome. Chromosome 16. In: Genet Test , 3/1999, pp. 243-54. PMID 10464676
• PJ Yong et al .: Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism. In: J Med Genet , 40/2004, pp. 175-82. PMID 12624135

Web links

• Ensembl - Chromosome 16 (English)
• Genetics Home Reference - Chromosome 16 (English)
• The genetic map of chromosome 16 (English)
• The gene map of chromosome 16 with the associated diseases or syndromes (English)