Chromosome 4 (human)

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Human chromosome 4 idiogram

Chromosome 4 is one of 23 chromosomes pairs of people . A healthy person has two largely identical copies of this chromosome in most of his cells .

Decoding the chromosome 4

Chromosome 4 consists of 191 million base pairs . A base pair is the smallest unit of information in DNA . Chromosome 4 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 700 and 1200 genes on chromosome 4. The sequencing in April 2005 found 796 protein-coding genes and 778 pseudo-genes . Pseudo-genes are no longer functional ("switched off") genes. The proportion of pseudo-genes on chromosome 4 is extremely high at almost 50%.

Known genes on chromosome 4

Chromosome 4 contains the following genes, among others:

  • AGA
  • ANK2 : Ankyrin-2
  • ANTXR2
  • ACVR-1 : Activin A receptor, type I.
  • Complement factor I.
  • CISD2
  • CRMP1 : Collapsin response mediator protein 1
  • CXCL1 : chemokine (CXC motif) ligand 1
  • CXCL2 : chemokine (CXC motif) ligand 2
  • CXCL3 : chemokine (CXC motif) ligand 3
  • CXCL4 : chemokine (CXC motif) ligand 4
  • CXCL5 : chemokine (CXC motif) ligand 5
  • CXCL6 : chemokine (CXC motif) ligand 6
  • CXCL7 : chemokine (CXC motif) ligand 7
  • CXCL8 : Interleukin-8 (IL-8)
  • CXCL9 : Monokine induced by gamma interferon
  • CXCL10 : chemokine (CXC motif) ligand 10
  • CXCL11 : chemokine (CXC motif) ligand 11
  • CXCL12 : chemokine (CXC motif) ligand 12
  • CXCL13 : chemokine (CXC motif) ligand 13
  • CYP4V2
  • DOK
  • DRD5
  • DSPP
  • DUX4 : Double homeobox, 4
  • EGF : Epidermal Growth Factor
  • EVC : Ellis van Creveld Syndrome
  • EVC2 : Ellis van Creveld syndrome 2
  • Factor XI
  • FGF2 : fibroblast growth factor
  • FGFR3 : fibroblast growth factor receptor 3
  • FGFRL1 : fibroblast growth factor receptor-like 1
  • HCL2
  • IGJ
  • KDR : Kinase insert domain receptor
  • MMAA : Methylmalonic aciduria type A protein, mitochondrial
  • PHOX2B : Paired-like homeobox 2b
  • PKD2 : Polycystic Kidney Disease 2
  • PLK4 : serine / threonine protein kinase PLK4
  • PTA : plasma thromboplastin antecedent
  • QDPR : quinoid dihydropteridine reductase
  • SRP72 : Signal Recognition Particle 72 kDa
  • SNCA : synuclein, alpha
  • STATH
  • UCP1 : thermogenin
  • UCHL1 : Ubiquitin carboxy-terminal hydrolase L1
  • UNC5C : Netrin receptor UNC5C
  • WFS1
  • Huntingtin

Medical importance

The 46 human chromosomes

The genes on chromosome 4 are associated with the following genetic diseases or symptoms , among others :

Individual evidence

  1. ↑ Genetics Home Reference, Chromosome 4 , as of February 29, 2008
  2. ↑ LW Hillier et al. a., Generation and annotation of the DNA sequences of human chromosomes 2 and 4. In: Nature , 434/2005, pp. 724-31, PMID 15815621
  3. ↑ Jane E. Brissenden, Axel Ullrich & Uta Francke, Human chromosomal mapping of genes for insulin-like growth factors I and II and epidermal growth factor , Nature 310, 781 - 784 (August 30, 1984)
  4. ^ EV Semina et al., Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus , American Journal of Human Genetics, 1996 December; 59 (6): 1288-1296.
  5. ↑ Genetics Home Reference: HTT
  6. ↑ Genetics Home Reference, Conditions related to genes on chromosome 4. , as of February 29, 2008

literature

  • A. Basinko et al. a .: Familial interstitial deletion of the short arm of chromosome 4 (p15.33-p16.3) characterized by molecular cytogenetic analysis. In: Am. J. Med. Genet. A. Feb. 2008, PMID 18302281

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