Chromosome 18 (human)

Human chromosome 18 idiogram

Chromosome 18 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 of chromosome 18

Chromosome 18 consists of 76.1 million base pairs . A base pair is the smallest unit of information in DNA . Chromosome 18 contains about 2.5% 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 300 and 500 genes on chromosome 18. So far, 289 of them are known. Chromosome 18 is one of the poorest human chromosomes.

Known genes on chromosome 18

Chromosome 18 contains the following genes, among others:

• APCDD1 : Glycoprotein for the cell membrane of the hair follicle
• Bcl-2 (belonging to the Bcl-2 family): Regulator of the metabolic functions of mitochondria under ischemic conditions
• MBP : Basic myelin protein , meaning for the myelin sheath of nerve cells

Medical importance

The 46 human chromosomes.

The genes located on chromosome 18 have been linked to the following genetic diseases or symptoms . These are among others:

• Bipolar disorder (MAFD1 gene)
• Arrhythmogenic right ventricular cardiomyopathy (DSC2 and DSG2 genes)
• B-cell lymphoma 2 (gene Bcl-2 )
• De Grouchy Syndrome
• Dyggve-Melchior-Clausen syndrome
• Edwards syndrome (trisomy 18)
• Elective mutism
• Erythropoietic protoporphyria
• Follicular lymphoma
• Hypotrichosis (with mutation Leu9Arg of the APCDD1 gene)
• Pena Shokeir Syndrome
• Pitt-Hopkins Syndrome
• Seckel syndrome type 2
• Smith-McCort Syndrome
• Stuttering (permanent in the family, the gene in question is named STUT1 , gene locus : 18p11.3-p11.2)
• focal dystonia (18p)

literature

• F. Gilbert: Disease genes and chromosomes: disease maps of the human genome. Chromosome 18. In: Genet Test , 1/1997, pp. 69-71. PMID 10464628
• H. Chen et al. a .: Trapping and sequence analysis of 1138 putative exons from human chromosome 18. In: Mol Psychiatry , 8/2003, pp. 619-23. PMID 12851638
• RL Schaub u. a .: Molecular characterization of 18p deletions: evidence for a breakpoint cluster. In: Genet Med , 4/2002, pp. 15-9. PMID 11839953
• B. Klauke u. a .: De novo desmin mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. In: Hum Mol Genet. , 2010, pp. 4595-607. PMID 20829228

Web links

• Ensembl - Chromosome 18 (English)
• Genetics Home Reference - Chromosome 18 (English)
• The gene map of chromosome 18 (English)
• The gene map of chromosome 18 with the associated diseases or syndromes (English)
• Chromosome 18 Registry and Research Society Europe (English)

Individual evidence

1. ↑ Genetics Home Reference, Chromosome 18 , as of February 29, 2008
2. ↑ ensembl.org, Chromosome 18 , accessed March 21, 2008
3. ↑ C. Nusbaum et al. a .: DNA sequence and analysis of human chromosome 18. In: Nature , 437/2005, pp. 551-555. PMID 16177791
4. ↑ ^{a b} Yutaka Shimomura et al .: APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex . In: Nature , 464, 2010, Letter, pp. 1043-1047, nature.com (PDF), doi: 10.1038 / nature08875
5. ↑ Catharina Neßelmann: Transfer of Bcl-2-Modified MSCs on the Coronary Artery Ligation Model of the Rat , Inaugural Dissertation, Introduction, p. 8 urn : nbn: de: gbv: 28-diss2008-0017-7
6. ↑ Genetics Home Reference, Conditions related to genes on chromosome 18. , As of February 29, 2008
7. ↑ Leube, 1996, Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution