Chromosome 22 (human)

Human chromosome 22 idiogram

Chromosome 22 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 22

Chromosome 22 consists of 49.7 million base pairs . A base pair is the smallest unit of information in DNA . Chromosome 22 contains about 1.5 to 2% of the total DNA of a human cell . It is the second smallest human chromosome. Identifying the genes on this chromosome is part of an ongoing process of deciphering the human genome. There are between 500 and 800 genes on chromosome 22. So far 508 of them are known.

Chromosome 22 was the first human chromosome to be fully sequenced.

Known genes on chromosome 22

Chromosome 22 contains the following genes, among others:

• MYH9 : myosin, heavy chain 9
• H1F0 : histone H1
• CPT1 : Carnitine palmityl transferase 1

Medical importance

The 46 human chromosomes.

The genes on chromosome 22 are associated with the following genetically determined diseases or symptoms . These are among others:

• Atypical teratoid / rhabdoid tumor
• Bernard-Soulier syndrome type B
• Burkitt lymphoma
• CDAGS syndrome
• Epstein Syndrome
• Fechtner syndrome
• Fibromyalgia
• Glioblastoma
• Kanzaki disease
• Karak syndrome
• Cat's Eye Syndrome
• May-Hegglin anomaly
• Microdeletion Syndrome 22q11
• Neurofibromatosis type 2
• Rubinstein-Taybi Syndrome
• Schindler's disease (types I and III)
• Sebastian Syndrome
• neutrophil immunodeficiency syndrome (NIDS)
• Schwannomatosis
• Sorsby Fundic Dystrophy
• Rhabdoid Predisposition Syndrome
• Transcobalamin type II
• Trisomy 22
• Zellweger Syndrome

Individual evidence

1. ↑ Genetics Home Reference, Chromosome 22 , as of February 29, 2008
2. ↑ ensembl.org, Chromosome 22 , accessed March 22, 2008
3. ↑ Genetics Home Reference, Conditions related to genes on chromosome 22. , As of February 29, 2008

literature

• I. Dunham et al., The DNA sequence of human chromosome 22. In: Nature , 402/1999, pp. 489-95. PMID 10591208
• F. Gilbert: Disease genes and chromosomes: disease maps of the human genome. Chromosome 22. In: Genet Test , 2/1998, pp. 89-97. PMID 10464650
• JL Rinn et al: The transcriptional activity of human chromosomes 22. In: Genes Dev , 17/2003, pp. 529-40. PMID 12600945

Web links

• Ensembl - Chromosome 22 (English)
• Genetics Home Reference - chromosome 22 (English)
• The gene map of chromosome 22 (English)
• The gene map of chromosome 22 with the associated diseases or syndromes (English)