Chromosome 8 (human)
3403119
222899486
2008-07-01T17:30:36Z
CopperKettle
1434427
/* Diseases & disorders */ schizophrenia assoc with 8p21-22
[[image:Chromosome_8.svg|right]]
'''Chromosome 8''' is one of the 23 pairs of [[chromosome]]s in [[human]]s. People normally have two copies of this chromosome. Chromosome 8 spans about 155 million [[base pair]]s (the building material of [[DNA]]) and represents between 4.5 and 5 % of the total DNA in [[cell (biology)|cells]].
Identifying [[gene]]s on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 8 likely contains between 700 and 1,000 genes.
==Genes==
The following are some of the genes located on chromosome 8:
* [[FGFR1]]: [[fibroblast growth factor]] receptor 1 (fms-related tyrosine kinase 2, [[Pfeiffer syndrome]])
* [[GDAP1]]: [[ganglioside-induced differentiation-associated protein]] 1
* [[Lipoprotein lipase|LPL]]: [[lipoprotein lipase]]
* [[microcephalin|MCPH1]]: [[microcephaly]], primary autosomal recessive 1
* [[NDRG1]]: N-myc downstream regulated gene 1
* [[NEF3]]: neurofilament 3 (150kDa medium)
* [[NEFL]]: neurofilament, light polypeptide 68kDa
* [[SNAI2]]: snail homolog 2 (Drosophila)
* [[Thyroglobulin|TG]]: [[thyroglobulin]]
* [[tissue plasminogen activator|TPA]]: [[tissue plasminogen activator]]
* [[VMAT1]], [[vesicular monoamine transporter]] protein
* [[WRN (gene)|WRN]]: [[Werner Syndrome]]
==Diseases & disorders==
The following diseases are some of those related to genes on chromosome 8:
* [[Burkitt's lymphoma]]
* [[Charcot-Marie-Tooth disease]]
* [[Charcot-Marie-Tooth disease, type 2]]
* [[Charcot-Marie-Tooth disease, type 4]]
* [[congenital hypothyroidism]]
* [[familial lipoprotein lipase deficiency]]
* Primary [[microcephaly]]
* [[Hereditary Multiple Exostoses]]
* [[Pfeiffer syndrome]]
* Rothmund-Thomson syndrome, or [http://www.emedicine.com/DERM/topic379.htm poikiloderma congenitale]
* [[Schizophrenia]], associated with 8p21-22 locus<!--
--><ref name="pmid9731535">{{cite journal |author=Blouin JL, Dombroski BA, Nath SK, ''et al'' |title=Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21 |journal=[[Nat. Genet.]] |volume=20 |issue=1 |pages=70–3 |year=1998 |month=September |pmid=9731535 |doi=10.1038/1734 |url=http://dx.doi.org/10.1038/1734}}</ref><ref name="pmid11179014">{{cite journal |author=Gurling HM, Kalsi G, Brynjolfson J, ''et al'' |title=Genomewide genetic linkage analysis confirms the presence of susceptibility loci for schizophrenia, on chromosomes 1q32.2, 5q33.2, and 8p21-22 and provides support for linkage to schizophrenia, on chromosomes 11q23.3-24 and 20q12.1-11.23 |journal=[[Am. J. Hum. Genet.]] |volume=68 |issue=3 |pages=661–73 |year=2001 |month=March |pmid=11179014 |pmc=1274479 |doi=10.1086/318788 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)63106-1}}</ref><ref name="pmid16400611">{{cite journal |author=Suarez BK, Duan J, Sanders AR, ''et al'' |title=Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample |journal=[[Am. J. Hum. Genet.]] |volume=78 |issue=2 |pages=315–33 |year=2006 |month=February |pmid=16400611 |pmc=1380238 |doi=10.1086/500272 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)62362-3}}</ref>
* [[Waardenburg syndrome]]
* [[Werner syndrome]]
* [[Pingelapese Blindness]]
==References==
{{reflist|2}}
* {{cite journal | author=Gilbert F | title=Chromosome 8 | journal=Genet Test | year=2001 | pages=345–54 | volume=5 | issue=4 | pmid=11960583 | doi=10.1089/109065701753617516}}
* {{cite journal | author=Nusbaum C et al. | title=DNA sequence and analysis of human chromosome 8 | journal=Nature | year=2006 | pages=331–5 | volume=439 | issue=7074 | pmid=16421571 | doi=10.1038/nature04406}}
{{genetics-stub}}
{{Chromosomes}}
[[Category:Chromosomes|Chromosome 08]]
[[de:Chromosom 8 (Mensch)]]
[[fr:Chromosome 8 humain]]
[[it:Cromosoma 8 (umano)]]
[[hu:Humán 8-as kromoszóma]]
[[no:Kromosom 8]]
[[pl:Chromosom 8]]
[[pt:Cromossoma 8 (humano)]]
[[sr:Хромозом 8 (човек)]]
[[tr:Kromozom 8]]
[[zh:8號染色體 (人類)]]