1번 염색체

Map of Chromosome 1. See locus for notation.

1번 염색체는 가장 긴 인간 염색체로 인간은 두벌을 가지는 상염색체이다. 2억4900만 염기쌍을 가진다. 인간 dna의 8%에 해당한다.

4,316개의 유전자를 가지고 있어 크기보다 유전자가 많다.. 인간 게놈 프로젝트가 시작된지 20년 만에 마지막으로 완성됐다. 단일염기다형성은 740,000개이다.

유전자

아래의 문단에 한국어로 번역되지 않은 내용이 담겨 있습니다. 번역되지 않은 부분은 번역을 마치거나 삭제해주어야 합니다. This section needs to be translated into Korean. Untranslated parts of the section should be rewritten in Korean or eliminated. (2013년 7월 3일에 문단의 번역이 요청되었습니다.)

다음은 1번 염색체에 위치한 유전자들의 일부이다.

p-arm

• 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

질병과 장애

아래의 문단에 한국어로 번역되지 않은 내용이 담겨 있습니다. 번역되지 않은 부분은 번역을 마치거나 삭제해주어야 합니다. This section needs to be translated into Korean. Untranslated parts of the section should be rewritten in Korean or eliminated. (2013년 7월 3일에 문단의 번역이 요청되었습니다.)

이 염색체와 연관된 질병은 890가지가 있다. 난청 (deafness), 알츠하이며 병, 녹내장과 유방암이 그 일부이다. 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

더 읽기

• Murphy WJ, Fronicke L, O'Brien SJ, Stanyon R (2003). “The Origin of Human Chromosome 1 and Its Homologs in Placental Mammals”. 《Genome Res》 13 (8): 1880–8. doi:10.1101/gr.1022303. PMC 403779. PMID 12869576.  CS1 관리 - 여러 이름 (링크)
• Revera, M.; Heradien, M; Goosen, A; Corfield, VA; Brink, PA; Moolman-Smook, JC; 외. (2007). “Long-term follow-up of R403WMHY7 and R92WTNNT2 HCM families: mutations determine left ventricular dimensions but not wall thickness during disease progression”. 《Cardiovascular Journal of Africa》 18 (3): 146–153. PMID 17612745.  CS1 관리 - et al.의 직접적인 사용 (링크)
• Schutte BC, Carpten JD, Forus A, Gregory SG, Horii A, White PS (2001). “Report and abstracts of the sixth international workshop on human chromosome 1 mapping 2000. Iowa City, Iowa, USA. 30 September-3 October 2000”. 《Cytogenet Cell Genet》 92 (1–2): 23–41. PMID 11306795.  CS1 관리 - 여러 이름 (링크)

외부 링크

• National Institutes of Health. “Chromosome 1”. 《Genetics Home Reference》. 2006년 5월 17일에 확인함. 
• Reuters Wed May 17, 2006
• Final genome 'chapter' published BBC NEWS