1番染色体、第1染色体、第1番染色体

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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）』「2013/03/11 16:27:24」(JST)

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Map of Chromosome 1. See locus for notation.

Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Chromosome 1 spans about 249 million nucleotide base pairs, which are the basic units of information for DNA.^[1] It represents about 8% of the total DNA in human cells.^[2]

Identifying genes on each chromosome is an active area of genetic research. Chromosome 1 is currently thought to have 4,316 genes, exceeding previous predictions based on its size.^[1] It was the last completed chromosome, sequenced two decades after the beginning of the Human Genome Project.

The number of single nucleotide polymorphisms (SNPs) is about 740,000.^{[citation needed]}

Genes

The following are some of the genes located on chromosome 1:

p-arm

Short and long arms

ACADM: acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain
COL11A1: collagen, type XI, alpha 1
CPT2: carnitine palmitoyltransferase II
DBT: dihydrolipoamide branched chain transacylase E2
DIRAS3: DIRAS family, GTP-binding RAS-like 3
ESPN: espin (autosomal recessive deafness 36)
GALE: UDP-galactose-4-epimerase
GJB3: gap junction protein, beta 3, 31kDa (connexin 31)
HMGCL: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)
KCNQ4: potassium voltage-gated channel, KQT-like subfamily, member 4
KIF1B: kinesin family member 1B
MFN2: mitofusin 2
MTHFR: 5,10-methylenetetrahydrofolate reductase (NADPH)
MUTYH: mutY homolog (E. coli)
NGF: Nerve Growth Factor
PARK7: Parkinson disease (autosomal recessive, early onset) 7
PINK1: PTEN induced putative kinase 1
PLOD1: procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
TACSTD2: tumour-associated calcium signal transducer 2
TSHB: thyroid stimulating hormone, beta
UROD: uroporphyrinogen decarboxylase (the gene for porphyria cutanea tarda)

q-arm

ASPM: a brain size determinant
F5: coagulation factor V (proaccelerin, labile factor)
FMO3: flavin containing monooxygenase 3
GBA: glucosidase, beta; acid (includes glucosylceramidase) (gene for Gaucher disease)
GLC1A: gene for glaucoma
HFE2: hemochromatosis type 2 (juvenile)
HPC1: gene for prostate cancer
IRF6: gene for connective tissue formation
LMNA: lamin A/C
MPZ: myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)
MTR: 5-methyltetrahydrofolate-homocysteine methyltransferase
PPOX: protoporphyrinogen oxidase
PSEN2: presenilin 2 (Alzheimer disease 4)
SDHB: succinate dehydrogenase complex subunit B
TNNT2: cardiac troponin T2
USH2A: Usher syndrome 2A (autosomal recessive, mild)

According to http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/chromo01.shtml the Chromosome 1 contains 263 million base pairs

Diseases & disorders

There are 890 known diseases related to this chromosome. Some of these diseases are deafness, Alzheimer disease, glaucoma and breast cancer. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. The following diseases are some of those related to genes on chromosome 1 (which contains the most known genetic diseases of any human chromosome):

1q21.1 deletion syndrome
1q21.1 duplication syndrome
Alzheimer disease
Alzheimer disease, type 4
Breast cancer
Brooke Greenberg Disease (Syndrome X)
Carnitine palmitoyltransferase II deficiency
Charcot–Marie–Tooth disease, types 1 and 2
collagenopathy, types II and XI
congenital hypothyroidism
Deafness, autosomal recessive deafness 36
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, kyphoscoliosis type
Factor V Leiden thrombophilia
Familial adenomatous polyposis
galactosemia
Gaucher disease
Gaucher disease type 1
Gaucher disease type 2
Gaucher disease type 3
Gaucher-like disease
Gelatinous drop-like corneal dystrophy
Glaucoma
Hemochromatosis
Hemochromatosis, type 2
Hepatoerythropoietic porphyria
Homocystinuria
Hutchinson Gilford Progeria Syndrome
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Hypertrophic cardiomyopathy, autosomal dominant mutations of TNNT2; hypertrophy usually mild; restrictive phenotype may be present; may carry high risk of sudden cardiac death
maple syrup urine disease
medium-chain acyl-coenzyme A dehydrogenase deficiency
Microcephaly
Muckle-Wells Syndrome
Nonsyndromic deafness
Nonsyndromic deafness, autosomal dominant
Nonsyndromic deafness, autosomal recessive
Oligodendroglioma
Parkinson disease
Pheochromocytoma
porphyria
porphyria cutanea tarda
popliteal pterygium syndrome
prostate cancer
Stickler syndrome
Stickler syndrome, COL11A1
TAR syndrome
trimethylaminuria
Usher syndrome
Usher syndrome type II
Van der Woude syndrome
Variegate porphyria

References

^ ^a ^b http://vega.sanger.ac.uk/Homo_sapiens/mapview?chr=1 Chromosome size and number of genes derived from this database, retrieved 2012-03-11.
^ Gregory SG, Barlow KF, McLay KE, et al. (May 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.

External links

National Institutes of Health. "Chromosome 1". Genetics Home Reference. http://ghr.nlm.nih.gov/chromosome=1. Retrieved May 17, 2006.
Reuters Wed May 17, 2006
Final genome 'chapter' published BBC NEWS

UpToDate Contents

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1. 軟部および骨肉腫の病原因子 pathogenetic factors in soft tissue and bone sarcomas

English Journal

Fine-mapping of quantitative trait loci for body weight and bone traits and positional cloning of the RB1 gene in chicken.

Zhang H, Liu SH, Zhang Q, Zhang YD, Wang SZ, Wang QG, Wang YX, Tang ZQ, Li H.SourceCollege of Animal Science and Technology, Northeast Agricultural University, Harbin, China ?College of Animal Science and Technology, China Agricultural University, Beijing, China ?Animal Genetics and Breeding Unit, University of New England, Armidale, NSW, Australia.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie.J Anim Breed Genet.2011 Oct;128(5):366-75. doi: 10.1111/j.1439-0388.2011.00927.x. Epub 2011 Apr 20.
Previously, a quantitative trait locus (QTL) that affects body weight (BW) at 4-12?weeks of age and carcass weight at 12?weeks of age had been mapped on chicken chromosome 1. After including more markers and individuals, the confidence interval was narrowed down to approximately 5.5 Mbps and loc
PMID 21906182

A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.

Ansar M, Lee K, Naqvi SK, Andrade PB, Basit S, Santos-Cortez RL, Ahmad W, Leal SM.SourceDepartment of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.
Journal of human genetics.J Hum Genet.2011 Sep 22. doi: 10.1038/jhg.2011.110. [Epub ahead of print]
A novel locus for autosomal recessive nonsyndromic hearing impairment (ARNSHI), DFNB96, was mapped to the 1p36.31-p36.13 region. A whole-genome linkage scan was performed using DNA samples from a consanguineous family from Pakistan with ARNSHI. A maximum two-point logarithm of odds (LOD) score of 3.
PMID 21937999

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