13番染色体、第13染色体、第13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）』「2015/08/31 10:44:11」(JST)

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Ideogram of human chromosome 13. Mbp means mega base pair. See locus for other notation.

Chromosome 13 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 13 spans about 114 million base pairs (the building material of DNA) and represents between 3.5 and 4% of the total DNA in cells.

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 number of genes varies. Chromosome 13 likely contains between 300 and 700 genes.^{[citation needed]}

Genes

The following are some of the genes located on chromosome 13:

ATP7B: ATPase, Cu++ transporting, beta polypeptide (Wilson disease)
BRCA2: breast cancer 2, early onset
CARKD: Carbohydrate Kinase Domain Containing Protein (Unknown Function)
EDNRB: endothelin receptor type B
GJB2: gap junction protein, beta 2, 26kDa (connexin 26)
GJB6: gap junction protein, beta 6 (connexin 30)
HTR2A: 5-HT_2A receptor
PCCA: propionyl Coenzyme A carboxylase, alpha polypeptide
RB1: retinoblastoma 1 (including osteosarcoma)
FLT1: Fms related tyrosine kinase 1 (Vascular endothelial growth factor receptor 1)
SLITRK1: mutation in this gene causes some (although very few) cases of Tourette syndrome and trichotillomania
SOX21: Transcription factor SOX-21 is a protein that in humans is encoded by the SOX21; its disruption can lead to types of alopecia in mice.

Diseases and disorders

The following diseases and disorders are some of those related to genes on chromosome 13:

Bladder cancer
Breast cancer
Heterochromia
Hirschsprung's disease
Maturity onset diabetes of the young type 4
Nonsyndromic deafness
Nonsyndromic deafness, autosomal dominant
Nonsyndromic deafness, autosomal recessive
Propionic acidemia
Retinoblastoma
Schizophrenia
Waardenburg syndrome
Wilson's disease
Patau syndrome
Chronic Lymphocytic Leukemia (Acquired defect)
Young–Madders syndrome

Chromosomal conditions

The following conditions are caused by changes in the structure or number of copies of chromosome 13:

Retinoblastoma: A small percentage of retinoblastoma cases are caused by deletions in the region of chromosome 13 (13q14) containing the RB1 gene. Children with these chromosomal deletions may also have mental retardation, slow growth, and characteristic facial features (such as prominent eyebrows, a broad nasal bridge, a short nose, and ear abnormalities). Researchers have not determined which other genes are located in the deleted region, but a loss of several genes is likely responsible for these developmental problems.
Trisomy 13: Trisomy 13 occurs when each cell in the body has three copies of chromosome 13 instead of the usual two copies. Trisomy 13 can also result from an extra copy of chromosome 13 in only some of the body's cells (mosaic trisomy 13). In a small percentage of cases, trisomy 13 is caused by a rearrangement of chromosomal material between chromosome 13 and another chromosome. As a result, a person has the two usual copies of chromosome 13, plus extra material from chromosome 13 attached to another chromosome. These cases are called translocation trisomy 13. Extra material from chromosome 13 disrupts the course of normal development, causing the characteristic signs and symptoms of trisomy 13. Researchers are not yet certain how this extra genetic material leads to the features of the disorder, which include severely abnormal cerebral functions, a small cranium, retardation, non functional eyes and heart defects.
Other chromosomal conditions: Partial monosomy 13q is a rare chromosomal disorder that results when a piece of the long arm (q) of chromosome 13 is missing (monosomic). Infants born with partial monosomy 13q may exhibit low birth weight, malformations of the head and face (craniofacial region), skeletal abnormalities (especially of the hands and feet), and other physical abnormalities. Mental retardation is characteristic of this condition. The mortality rate during infancy is high among individuals born with this disorder. Almost all cases of partial monosomy 13q occur randomly for no apparent reason (sporadic).

References

Baud O, Cormier-Daire V, Lyonnet S, Desjardins L, Turleau C, Doz F (1999). "Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion". Clin Genet 55 (6): 478–82. doi:10.1034/j.1399-0004.1999.550614.x. PMID 10450867.
Dunham A, Matthews LH, Burton J, Ashurst JL, Howe KL, Ashcroft KJ, Beare DM, Burford DC, Hunt SE, Griffiths-Jones S, Jones MC, Keenan SJ, Oliver K, Scott CE, Ainscough R, Almeida JP, Ambrose KD, Andrews DT, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Bannerjee R, Barlow KF, Bates K, Beasley H, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burrill W, Carder C, Carter NP, Chapman JC, Clamp ME, Clark SY, Clarke G, Clee CM, Clegg SC, Cobley V, Collins JE, Corby N, Coville GJ, Deloukas P, Dhami P, Dunham I, Dunn M, Earthrowl ME, Ellington AG, Faulkner L, Frankish AG, Frankland J, French L, Garner P, Garnett J, Gilbert JG, Gilson CJ, Ghori J, Grafham DV, Gribble SM, Griffiths C, Hall RE, Hammond S, Harley JL, Hart EA, Heath PD, Howden PJ, Huckle EJ, Hunt PJ, Hunt AR, Johnson C, Johnson D, Kay M, Kimberley AM, King A, Laird GK, Langford CJ, Lawlor S, Leongamornlert DA, Lloyd DM, Lloyd C, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, McLaren SJ, McMurray A, Milne S, Moore MJ, Nickerson T, Palmer SA, Pearce AV, Peck AI, Pelan S, Phillimore B, Porter KM, Rice CM, Searle S, Sehra HK, Shownkeen R, Skuce CD, Smith M, Steward CA, Sycamore N, Tester J, Thomas DW, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Wilming L, Wray PW, Wright MW, Young L, Coulson A, Durbin R, Hubbard T, Sulston JE, Beck S, Bentley DR, Rogers J, Ross MT (2004). "The DNA sequence and analysis of human chromosome 13". Nature 428 (6982): 522–8. doi:10.1038/nature02379. PMC 2665288. PMID 15057823.
Gilbert F (2000). "Chromosome 13". Genet Test 4 (1): 85–94. doi:10.1089/109065700316543. PMID 10794368.
Kivela T, Tuppurainen K, Riikonen P, Vapalahti M (2003). "Retinoblastoma associated with chromosomal 13q14 deletion mosaicism". Ophthalmology 110 (10): 1983–8. doi:10.1016/S0161-6420(03)00484-6. PMID 14522775.

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

UpToDate Contents

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1. 染色体の転座、欠失、および逆位 chromosomal translocations deletions and inversions
2. 微細欠失症候群（12番～22番染色体） microdeletion syndromes chromosomes 12 to 22
3. 先天性の細胞遺伝学的異常 congenital cytogenetic abnormalities
4. 成人におけるフィラデルフィア染色体陽性急性リンパ芽球性白血病に対する寛解後療法 post remission therapy for philadelphia chromosome positive acute lymphoblastic leukemia in adults
5. 成人におけるフィラデルフィア染色体陽性急性リンパ芽球性白血病に対する導入療法 induction therapy for philadelphia chromosome positive acute lymphoblastic leukemia in adults

English Journal

A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands.

Ostergaard E, Joensen F, Sundberg K, Duno M, Hansen FJ, Batbayli M, Sørensen N, Born AP.SourceDepartment of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark Department of Pediatrics, National Hospital of the Faroe Islands, FO-100 Tórshavn, Faroe Islands Department of Obstetrics and Gynecology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark Department of Pediatrics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark Department of Pediatrics, Hillerod Hospital, Hillerod, Denmark.
Acta paediatrica (Oslo, Norway : 1992).Acta Paediatr.2012 Aug 7. doi: 10.1111/j.1651-2227.2012.02807.x. [Epub ahead of print]
Aim: The aim of the study was to identify the genetic background for Aicardi-Goutieres syndrome (AGS) in the Faroe Islands. Methods: Four patients with AGS were identified. The patients had a variable phenotype, from a severe prenatal form with intrauterine fetal death to a milder phenotype, a
PMID 22882256

The interleukin 4 receptor gene and its role in recurrent airway obstruction in Swiss Warmblood horses.

Klukowska-Rötzler J, Swinburne JE, Drögemüller C, Dolf G, Janda J, Leeb T, Gerber V.SourceInstitute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland. Animal Health Trust, Newmarket, Suffolk CB8 7UU, UK. Division of Experimental Clinical Research, Vetsuisse Faculty, University of Bern, Bern, Switzerland. Equine Clinic, Department of Clinical Veterinary Medicine, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
Animal genetics.Anim Genet.2012 Aug;43(4):450-3. doi: 10.1111/j.1365-2052.2011.02277.x. Epub 2011 Oct 28.
Recurrent airway obstruction (RAO) in horses is the result of an interaction of genetic and environmental factors and shares many characteristics with human asthma. Many studies have suggested that the interleukin-4 receptor gene (IL4R) is associated with this disease, and a QTL region on chromosome
PMID 22497430

Japanese Journal

造血器腫瘍の分子標的薬と染色体検査・遺伝子検査の役割 (今月の特集がん分子標的治療にかかわる臨床検査・遺伝子検査)

臨床検査 = Journal of clinical laboratory medicine 60(13
NAID 40021011025

Clinical significance and origin of leukocytes that lack HLA-A allele expression in patients with acquired aplastic anemia

Experimental Hematology 44(10), 931-939, 2016-10-01
NAID 120005895697

A study of single nucleotide polymorphisms of the SLC19A1/RFC1 gene in subjects with autism spectrum disorder

International Journal of Molecular Sciences 17(5), 00772, 2016-05
NAID 120005774898

「13番染色体」

Chromosome 13 (human)
	Pair of human chromosome 13 (after G-banding).; One is from mother, one is from father.
	Chromosome 13 pair in human male karyogram.
Features
Length (bp)	114,364,328 bp
Number of genes	993
Type	Autosome
Centromere position	Acrocentric
Identifiers
RefSeq	NC_000013
GenBank	CM000675