Chromosome 19 (human)

Human chromosome idiogram 19

Chromosome 19 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 19

Chromosome 19 consists of 63.8 million base pairs (a base pair is the smallest unit of information in DNA ). Chromosome 19 contains about 2 to 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 1427 to 1700 genes on chromosome 19, 1427 of which are known. Chromosome 19 has the highest gene density of all human chromosomes, about twice as high as that of other chromosomes.

The phenotype of the Bombay blood group is on chromosome 19.

Known genes on chromosome 19

Chromosome 19 contains the following genes, among others:

• ApoE : apolipoprotein E.
• KIR : Killer Cell Immunoglobulin-like Receptor
• KLK4 : kallikrein-related peptidase 4
• KISS1R : KiSS1 receptor
• LDLR : LDL receptor
• PRTN3 : proteinase 3
• NPHS1 : nephrin
• TGFB1 : Transforming Growth Factor β1
• TnT : troponin

Medical importance

The 46 human chromosomes.

The genes on chromosome 19 are linked to the following genetic diseases or symptoms . These are among others:

• Maple syrup disease
• Acute lymphoblastic leukemia
• CADASIL ( Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy )
• Camurati-Engelmann Syndrome
• Diamond Blackfan Syndrome
• familial hemiplegic migraines
• Focal segmental glomerulosclerosis (hereditary form)
• Type 2 hyperlipoproteinemia
• Hyperthyroidism
• Mayer-Rokitansky-Küster-Hauser syndrome
• Multicore myopathy
• Type 1 myotonic dystrophy
• Nasu Hakola Disease (membranous lipodystrophy )
• Oligodendroglioma
• Peutz-Jeghers Syndrome

Individual evidence

1. ↑ Genetics Home Reference, Chromosome 19 , as of February 29, 2008
2. ↑ ensembl.org, Chromosome 19 , accessed March 20, 2008
3. ↑ J. Grimwood et al .: The DNA sequence and biology of human chromosome 19. In: Nature , 428/2004, pp. 529-35. PMID 15057824
4. ↑ James S. O'Donnell et al., Bombay phenotype is associated with reduced plasma-VWF levels and an increased susceptibility to ADAMTS13 proteolysis. In: Blood , Vol. 106, No. 6, September 15, 2005, pp. 1988-1991.
5. ↑ Genetics Home Reference: TGFB1
6. ↑ F. Samson et al., Isolation and localization of a slow troponin (TnT) gene on chromosome 19 by subtraction hybridization of a cDNA muscle library using myotonic dystrophy muscle cDNA , Journal of Neuroscience Research, Volume 27 Issue 4, Pages 441 - 451
7. ↑ Genetics Home Reference, Conditions related to genes on chromosome 19. , As of February 29, 2008
8. ↑ Genetics Home Reference: Camurati-Engelmann disease

literature

• F. Gilbert: Disease genes and chromosomes: disease maps of the human genome. Chromosome 19. In: Genet Test , Volume 1, 1997, pp. 145-149. PMID 10464639

Web links

• Ensembl - Chromosome 19 (English)
• Genetics Home Reference - chromosome 19 (English)
• The genetic map of chromosome 19 (English)
• The gene map of chromosome 19 with the associated diseases or syndromes (English)