19番染色体、第19染色体、第19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）』「2015/10/21 21:50:50」(JST)

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Ideogram of human chromosome 19. Mbp means mega base pair. See locus for other notation.

Chromosome 19 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 19 spans more than 58.6 million base pairs, the building material of DNA.

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. Depending on the genome annotation used, chromosome 19 contains 2,188 or 2,670 genes,^[2]^[3] and chromosome 19 thereby has the highest gene density of all the 24 chromosomes.

Genes

The following are some of the genes located on chromosome 19:

KLK3: The Prostate-specific antigen (PSA)
NWD1: NACHT and WD repeat domain containing 1.
PEX11G: peroxisomal biogenesis factor 11 gamma
PRX: Periaxin
SLC5A5: Solute carrier family 5 (sodium iodide symporter), member 5
STK11: Serine/threonine kinase 11 (Peutz-Jeghers syndrome)
ZNF649: Transcriptional suppressor

Short arm

CACNA1A: Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (Familial hemiplegic migraine Type I). Gene map locus 19p13
COMP: Cartilage oligomeric matrix protein. Gene map locus 19p13.1
NOTCH3: Notch homolog 3 (Drosophila): Gene map locus 19p13.1-p13.2
GCDH: Glutaryl-Coenzyme A dehydrogenase. Gene map locus 19p13.2
BSG: Basigin (Ok blood group)/Extracellular matrix metalloproteinase inducer/CD147. Gene map locus 19p13.3
ICAM4: Landsteiner and Weiner glycoprotein. Gene map locus 19p13.3
NRTN: Neurturin, associated with Hirschsprung's disease: Gene locus map 19p13.3
HCL1: Hair Colour 1; Brown hair colour; BRHC. Gene map locus 19p13.1-q13.11 OMIM: 113750
EYCL1: Eye Colour 1; Eye colour, green/blue; GEY. Gene map locus 19p13.1-q13.11 OMIM: 227240
KLF2: Krüppel-like factor 2, also known as Lung Krüppel-like factor. Gene map locus 19p13.11 OMIM: 602016

Long arm

HAMP: Hepcidin antimicrobial peptide. Gene map locus 19q13.12
BCKDHA: Branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease). Gene map location 19q13.1-q13.2
APOE: Apolipoprotein E, gene associated with Alzheimer's disease. Gene map locus 19q13.2
ATP1A3: ATPase. Gene map locus 19q13.31
DMPK: Dystrophia myotonica-protein kinase. Gene map locus 19q13.32
A1BG: Plasma glycoprotein, unknown function. Gene map locus 19q13.43
LRC: The Leukocyte Receptor Complex is a family of immunoreceptors expressed predominantly on monocytes and B cells and at lower levels on dendritic cells and natural killer (NK) cells. The LRC also includes the KIR locus. Gene map locus 19q13.4 OMIM: 604812
KPTN: Kaptin (actin binding protein) at the tips of stereocilia. Gene map locus 19q13.4^[5]
FUT1: The H locus is located on chromosome 19 at 19q13.3. It contains three exons that span more than 5 kb of genomic DNA, and it encodes a fucosyltransferase that produces the H antigen on RBCs.^[6]
FUT2: The Se locus is located on chromosome 19 at 19q13.3. It contains two exons that span about 25 kb of genomic DNA. The Se locus encodes a specific fucosyltransferase that is expressed in the epithelia of secretory tissues, such as salivary glands, the gastrointestinal tract, and the respiratory tract. The enzyme it encodes catalyzes the production of H antigen.^[6]

Diseases and disorders

The following diseases are some of those related to genes on chromosome 19:^[7]

Alternating hemiplegia of childhood
Alzheimer's disease
CADASIL
Centronuclear myopathy autosomal dominant form
Charcot-Marie-Tooth disease
Congenital hypothyroidism
Congenital hearing loss
Donohue syndrome
Familial hemiplegic migraine
Glutaric acidemia type 1
Hemochromatosis
Leber's Congenital Amaurosis^[8]
Maple syrup urine disease
Multiple epiphyseal dysplasia
Myotonic dystrophy
Myotubular myopathy autosomal dominant form
Marfan Syndrome
Oligodendroglioma
Peutz-Jeghers syndrome
Pseudoachondroplasia
Spinocerebellar ataxia type-6
X-linked agammaglobulinemia or Bruton's Disease
Prolidase deficiency

References

^ "Homo sapiens chromosome 19, GRCh37.p13 Primary Assembly". Nucleotide. National Center for Biotechnology Information. NC_000019.10.
^ ^a ^b "Homo sapiens (human) Chromosome 19". NCBI Map Viewer. National Center for Biotechnology Information. Retrieved October 17, 2013.
^ ^a ^b "Homo sapiens: Chromosome summary: Chromosome 19: 1-58,617,616". Wellcome Trust Sanger Institute. Retrieved November 2014.
^ "Table 2.3: Human chromosome groups". Human Molecular Genetics (2nd ed.). Garland Science. 1999.
^ Bearer EL, Chen AF, Chen AH, Li Z, Mark HF, Smith RJ, Jackson CL (2000). "2E4/Kaptin (KPTN)—a candidate gene for the hearing loss locus, DFNA4". Ann Hum Genet 64 (3): 189–196. doi:10.1046/j.1469-1809.2000.6430189.x. PMC 3376086. PMID 11409409.
^ ^a ^b Dean, L. (2005). "Ch. 5: The ABO blood group". Blood Groups and Red Cell Antigens. Bethesda MD: National Center for Biotechnology Information. NBK2261.
^ Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 19". Genet Test 1 (2): 145–9. doi:10.1089/gte.1997.1.145. PMID 10464639.
^ Moss, K (Spring 2001). "Leber's Congenital Amaurosis". Texas Deafblind Outreach. Texas School for the Blind and Visually Impaired.

Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM, Lucas SM (2004). "The DNA sequence and biology of human chromosome 19". Nature 428 (6982): 529–35. doi:10.1038/nature02399. PMID 15057824.
Human Proteome Project Launch website~ http://www.hupo.org/research/hpp/HPP_legrain_sep_2010.pdf

UpToDate Contents

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1. 先天性の細胞遺伝学的異常 congenital cytogenetic abnormalities
2. 男性不妊症の原因 causes of male infertility
3. 乏突起膠腫の臨床的特徴、病理、および予後因子 clinical features pathology and prognostic factors for oligodendroglial tumors
4. 慢性骨髄性白血病の分子遺伝学 molecular genetics of chronic myeloid leukemia
5. 慢性骨髄性白血病の臨床症状および診断 clinical manifestations and diagnosis of chronic myeloid leukemia

English Journal

TOMM40'523 variant and cognitive decline in older persons with APOE ε3/3 genotype.

Yu L1, Lutz MW2, Wilson RS2, Burns DK2, Roses AD2, Saunders AM2, Gaiteri C2, De Jager PL2, Barnes LL2, Bennett DA2.
Neurology.Neurology.2017 Jan 20. pii: 10.1212/WNL.0000000000003614. doi: 10.1212/WNL.0000000000003614. [Epub ahead of print]
OBJECTIVE: To interrogate a poly-T variant (rs10524523, '523) in TOMM40, a gene adjacent to the APOE gene on chromosome 19, in older persons with APOE ε3/3 homozygosity for association with cognitive decline, the clinical hallmark of Alzheimer disease (AD).METHODS: Data came from participants in 2
PMID 28108637

Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy.

Zolotov S1, Xing C2, Mahamid R1, Shalata A3, Sheikh-Ahmad M4, Garg A5.
American journal of medical genetics. Part A.Am J Med Genet A.2017 Jan;173(1):190-194. doi: 10.1002/ajmg.a.37880. Epub 2016 Nov 11.
Despite considerable progress in identifying causal genes for lipodystrophy syndromes, the molecular basis of some peculiar adipose tissue disorders remains obscure. In an Israeli-Arab pedigree with a novel autosomal recessive, multiple symmetric lipomatosis (MSL), partial lipodystrophy and myopathy
PMID 27862896

Genetic and methylation variation in the CYP2B6 gene is related to circulating p,p'-dde levels in a population-based sample.

Lind L1, Ng E2, Ingelsson E3, Lindgren C4, Salihovic S5, van Bavel B6, Mahajan A7, Lampa E8, Morris AP9, Lind PM10.
Environment international.Environ Int.2017 Jan;98:212-218. doi: 10.1016/j.envint.2016.11.010. Epub 2016 Nov 11.
OBJECTIVES: Since the metabolism of the organochlorine pesticide dichlorodiphenyltrichloroethane (DDT) is not fully known in humans, we evaluated if circulating levels of a major breakdown product of DDT, p,p'-DDE, were related to genome-wide genetic and methylation variation in a population-based s
PMID 27839851

Japanese Journal

Identification of novel schizophrenia loci by homozygosity mapping using DNA microarray analysis.

Kurotaki Naohiro,Tasaki Shinya,Mishima Hiroyuki,Ono Shinji,Imamura Akira,Kikuchi Taeko,Nishida Nao,Tokunaga Katsushi,Yoshiura Koh-ichiro,Ozawa Hiroki
PLoS One 6(5), e20589, 2011-05-31
… We identified overlapping ROHs on chromosomes 1, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 16, 17, 19, 20, and 21 in at least 3 individuals. … Only the locus on chromosome 5 has been reported previously. … The ROHs on chromosome 5q23.3-q31.1 include the candidate genes histidine triad nucleotide binding protein 1 (HINT1) and acyl-CoA synthetase long-chain family member 6 (ACSL6). …
NAID 120003238500

顎変形症の手術を契機に発見された多発性内分泌腺腫症2B型 (MEN 2B) 例

栗原理紗,篠原尚吾,菊地正弘,藤原敬三,山崎博司,金沢佑治,岸本逸平,内藤泰
耳鼻咽喉科臨床 104(5), 365-369, 2011-05-01
… Multiple endocrine neoplasia type 2B (MEN 2B), an autosomal dominant syndrome, involves endocrine tumors caused by RET protooncogene germ-line mutations in chromosome 10. … The case we report, initially suspected in jaw deformity surgery, was a 19-year-old man whose malocclusion was found in a school health checkup. …
NAID 10027972675

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リンク元

「19番染色体」

Chromosome 19 (human)
	Pair of human chromosome 19 (after G-banding).; One is from mother, one is from father.
	Chromosome 19 pair in human male karyogram.
Features
Length (bp)	58,617,616 bp
Number of genes	2,188 ; 2,670
Type	Autosome
Centromere position	Metacentric
Identifiers
RefSeq	NC_000019
GenBank	CM000681

　　[★]

英: chromosome 19
同: 第19番染色体、第19染色体

乏突起膠腫では1pと19qの欠失が見られる。

[RefSeq_record-1] "Homo sapiens chromosome 19, GRCh37.p13 Primary Assembly". Nucleotide. National Center for Biotechnology Information. NC_000019.10.

[mapview9606_19-2] "Homo sapiens (human) Chromosome 19". NCBI Map Viewer. National Center for Biotechnology Information. Retrieved October 17, 2013.

[vega_19-3] "Homo sapiens: Chromosome summary: Chromosome 19: 1-58,617,616". Wellcome Trust Sanger Institute. Retrieved November 2014.

[4] "Table 2.3: Human chromosome groups". Human Molecular Genetics (2nd ed.). Garland Science. 1999.

[5] Bearer EL, Chen AF, Chen AH, Li Z, Mark HF, Smith RJ, Jackson CL (2000). "2E4/Kaptin (KPTN)—a candidate gene for the hearing loss locus, DFNA4". Ann Hum Genet 64 (3): 189–196. doi:10.1046/j.1469-1809.2000.6430189.x. PMC 3376086. PMID 11409409.

[Dean05-6] Dean, L. (2005). "Ch. 5: The ABO blood group". Blood Groups and Red Cell Antigens. Bethesda MD: National Center for Biotechnology Information. NBK2261.

[7] Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 19". Genet Test 1 (2): 145–9. doi:10.1089/gte.1997.1.145. PMID 10464639.

[8] Moss, K (Spring 2001). "Leber's Congenital Amaurosis". Texas Deafblind Outreach. Texas School for the Blind and Visually Impaired.

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chromosome 19