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a threadlike strand of DNA in the cell nucleus that carries the genes in a linear order; "humans have 22 chromosome pairs plus two sex chromosomes"

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染色体

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/08/17 17:31:54」(JST)

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Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 spans about 145 million base pairs (the building material of DNA) and represents between 4.5 and 5.0% of the total DNA in cells.^[1]

The chromosome has two arms, 8p and 8q. The short arm, 8p, has about 45 million base pairs, about 1.5% of the genome, and includes 484 genes and 110 pseudogenes; about 8% of its genes are involved in brain development and function, and about 16% are involved in cancer. A unique feature of 8p is a big region of about 15 megabases that appears to have a high mutation rate, and which shows an immense divergence between human and chimpanzee, suggesting that its high mutation rates have contributed to the evolution of the human brain.^[1]

Identifying genes 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 is likely to contain between 700 and 1,000 genes.

Genes[edit source | edit]

The following are some of the genes located on chromosome 8:

AEG1 : Astrocyte Elevated Gene (linked to hepatocellular carcinoma and neuroblastoma)
Arc/Arg3.1
COH1
FGFR1: fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)
GDAP1: ganglioside-induced differentiation-associated protein 1
LPL: lipoprotein lipase
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)
TG: thyroglobulin
TPA: tissue plasminogen activator
VMAT1: vesicular monoamine transporter protein
WRN: Werner syndrome
GULOP pseudogene: responsible for human inability to produce our own Vitamin C

Diseases & disorders[edit source | edit]

The following diseases are some of those related to genes on chromosome 8:

8p23.1 duplication syndrome
Burkitt's lymphoma
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type 2
Charcot-Marie-Tooth disease, type 4
Cleft lip and palate
Cohen syndrome
Congenital hypothyroidism
Lipoprotein lipase deficiency, familial
Primary microcephaly
Hereditary Multiple Exostoses
Pfeiffer syndrome
Rothmund-Thomson syndrome, or poikiloderma congenitale
Schizophrenia, associated with 8p21-22 locus^[2]^[3]^[4]
Waardenburg syndrome
Werner syndrome
Pingelapese blindness
Langer-Giedion syndrome
Roberts Syndrome

References[edit source | edit]

^ ^a ^b Tabarés-Seisdedos R, Rubenstein JL (2009). "Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer". Mol Psychiatry 14 (6): 563–89. doi:10.1038/mp.2009.2. PMID 19204725.
^ Blouin JL, Dombroski BA, Nath SK, et al. (September 1998). "Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21". Nat. Genet. 20 (1): 70–3. doi:10.1038/1734. PMID 9731535.
^ Gurling HM, Kalsi G, Brynjolfson J, et al. (March 2001). "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". Am. J. Hum. Genet. 68 (3): 661–73. doi:10.1086/318788. PMC 1274479. PMID 11179014.
^ Suarez BK, Duan J, Sanders AR, et al. (February 2006). "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". Am. J. Hum. Genet. 78 (2): 315–33. doi:10.1086/500272. PMC 1380238. PMID 16400611.

Gilbert F (2001). "Chromosome 8". Genet Test 5 (4): 345–54. doi:10.1089/109065701753617516. PMID 11960583.
Nusbaum C et al. (2006). "DNA sequence and analysis of human chromosome 8". Nature 439 (7074): 331–5. doi:10.1038/nature04406. PMID 16421571.

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1. 染色体の転座、欠失、および逆位 chromosomal translocations deletions and inversions
2. 性染色体異常 sex chromosome abnormalities
3. 微細欠失症候群（1番～11番染色体） microdeletion syndromes chromosomes 1 to 11
4. 先天性の細胞遺伝学的異常 congenital cytogenetic abnormalities
5. 遺伝性疾患の基本原則 basic principles of genetic disease

English Journal

MYC Analysis by Fluorescent In Situ Hybridization and Immunohistochemistry in Primary Adrenal Angiosarcoma (PAA): a Series of Four Cases.

Cornejo KM1,2, Hutchinson L3, Cyr MS3, Nose V4, McLaughlin PJ4, Iafrate AJ4, Sadow PM4.
Endocrine pathology.Endocr Pathol.2015 Dec;26(4):334-41. doi: 10.1007/s12022-015-9385-4.
Primary adrenal angiosarcomas (PAA) are rare with 36 cases reported in the English literature. MYC protein expression and gene amplification have been detected in secondary angiosarcoma (AS), and a subset of primary AS. The aim of this study was to report the clinicopathologic features of PAA and ex
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Potential Therapeutic Approaches For The Treatment Of Acute Myeloid Leukemia With AML1-ETO Translocation.

Arora R, Sawney S, Saluja D1.
Current cancer drug targets.Curr Cancer Drug Targets.2015 Nov 13. [Epub ahead of print]
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Deletion of a telomeric region on chromosome 8 correlates with higher productivity and stability of CHO cell lines.

Ritter A1,2, Voedisch B1, Wienberg J3, Wilms B2, Geisse S1, Jostock T2, Laux H2.
Biotechnology and bioengineering.Biotechnol Bioeng.2015 Nov 2. doi: 10.1002/bit.25876. [Epub ahead of print]
Chinese Hamster Ovary (CHO) cells are widely used for large scale production of recombinant biopharmaceuticals. Although these cells have been extensively used, a demand to further increase the performance i.e. to facilitate the process of clone selection to isolate the highest producing cell lines
PMID 26523402

Japanese Journal

Activation of tumor suppressor protein PTEN and induction of apoptosis are involved in cAMP-mediated inhibition of cell number in B92 glial cells

Sugimoto Naotoshi,Miwa Shinji,Ohno-Shosaku Takako,Tsuchiya Hiroyuki,Hitomi Yoshiaki,Nakamura Hiroyuki,Tomita Katsuro,Yachie Akihiro,Koizumi Shoichi
Neuroscience Letters 497(1), 55-59, 2011-06-15
… Tumor suppressor protein phosphatase and tensin homolog deleted on chromosome 10 (PTEN) is a lipid phosphatase that inhibits the phosphoinositide 3-kinase (PI3K) pathway. …
NAID 120003141599

Myelin basic protein as a novel genetic risk factor in rheumatoid arthritis-a genome-wide study combined with immunological analyses.

Terao Chikashi,Ohmura Koichiro,Katayama Masaki,Takahashi Meiko,Kokubo Miki,Diop Gora,Toda Yoshinobu,Yamamoto Natsuki,Human Disease Genomics Working Group,Rheumatoid Arthritis (RA) Clinical and Genetic Study Consortium,Shinkura Reiko,Shimizu Masakazu,Gut Ivo,Heath Simon,Melchers Inga,Manabe Toshiaki,Lathrop Mark,Mimori Tsuneyo,Yamada Ryo,Matsuda Fumihiko
PloS one 6(6), 2011-06
… A novel risk variant, rs2000811, in intron2 of the myelin basic protein (MBP) at chromosome 18q23 showed strong association with RA (p = 2.7×10(-8), OR 1.23, 95% CI: 1.14-1.32). …
NAID 120003184064