Chromosome 5 (human)
Chromosome 5 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 5
Chromosome 5 consists of 181 million base pairs . A base pair is the smallest unit of information in DNA . Chromosome 5 contains approximately 6% of the total DNA in a human cell. Identifying the genes on this chromosome is part of an ongoing process of deciphering the human genome. There are between 900 and 1300 genes on chromosome 5.
Known genes on chromosome 5
Chromosome 5 contains the following genes, among others:
- CD : CD14 receptor
- OCLN : occludin
- SRP19 : Signal Recognition Particle 19 kDa
- APC : Adenomatous Polyposis coli
- Factor XII : Hageman factor
- FGF : fibroblast growth factor , for example FGF-18
- MCCC2 : β-subunit of methylcrotonoyl-CoA carboxylase
Medical importance
The genes on chromosome 5 are linked to the following genetic diseases or symptoms . These are among others:
- Breast cancer
- Cornelia de Lange Syndrome
- Distal myopathy 2
- Familial adenomatous polyposis
- Kartagener's syndrome
- Cat cry syndrome (chromosome 5p syndrome)
- Colorectal cancer
- Crohn's disease
- Myelodysplastic Syndrome
- Oculocutaneous albinism type 4
- Sotos syndrome
- Spinal muscular atrophy
Individual evidence
- ↑ Genetics Home Reference, Chromosome 5 , as of February 29, 2008
- ↑ Genetics Home Reference, Conditions related to genes on chromosome 5. , As of February 29, 2008
- ^ Distal myopathy 2. In: Online Mendelian Inheritance in Man . (English)
literature
- J. Schmutz et al .: The DNA sequence and comparative analysis of human chromosome 5. In: Nature . 431/2004, pp. 268-274, PMID 15372022 .
- K. Cornish et al .: Cri du chat syndrome: genotype-phenotype correlations and recommendations for clinical management. In: Dev Med Child Neurol . 44/2002, PMID 12162388 , pp. 494-497.
- AA Giagounidis et al: Biological and prognostic significance of chromosome 5q deletions in myeloid malignancies. In: Clin Cancer Res . 12/2006, PMID 16397017 , pp. 5-10.
- C. Libioulle et al. a., Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. In: PLoS Genet . 3/2007, e58. PMID 17447842
- PC Mainardi et al .: Clinical and molecular characterization of 80 patients with 5p deletion: genotype-phenotype correlation. In: J. Med. Genet. 38/2001, PMID 11238681 , pp. 151-158.
Web links
- Ensembl - Chromosome 5 (English)
- Genetics Home Reference - chromosome 5 (English)
- The "genetic map" of chromosome 5 (English)