WordNet
- 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"
PrepTutorEJDIC
- 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）』「2017/02/15 05:52:25」(JST)
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| Chromosome 9 (human) |
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Human chromosome 9 pair after G-banding.
One is from mother, one is from father.
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Chromosome 9 pair in human male karyogram.
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| Features |
| Length (bp) |
138,394,717 bp |
| Number of genes |
2,262[1]
1,940[2] |
| Type |
Autosome |
| Centromere position |
Submetacentric[3] |
| Identifiers |
| RefSeq |
NC_000009 |
| GenBank |
CM000671 |
Ideogram of human chromosome 9. Mbp means mega base pair. See locus for other notation.
Chromosome 9 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome, as they normally do with all chromosomes. Chromosome 9 spans about 138 million base pairs of nucleic acids (the building blocks of DNA) and represents between 4 and 4.5 percent of the total DNA in cells.
Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies. In January 2017, two estimates differed by 14%, with one estimate giving 2,262[1] genes, and the other estimate giving 1,940[2] genes.
Genes
The following are some of the genes located on chromosome 9:
- ABO: ABO histo-blood group glycosyltransferases
- ACTL7A: encoding protein Actin-like protein 7A
- ADAMTS13: ADAM metallopeptidase with thrombospondin type 1 motif, 13
- ALAD: aminolevulinate, delta-, dehydratase
- ALS4: amyotrophic lateral sclerosis 4
- ASS: argininosuccinate synthetase
- CCL21: chemokine (C-C motif) ligand 21, SCYA21
- CCL27: chemokine (C-C motif) ligand 27, SCYA27
- C9orf58/AIF1L: encoding protein Allograft inflammatory factor 1-like
- C9orf78: encoding protein Uncharacterized protein C9orf78
- C9orf82: encoding protein Uncharacterized protein C9orf82
- C9orf91: encoding protein C9orf91
- C9orf135: encoding protein Chromosome 9 open reading frame 135
- COL5A1: collagen, type V, alpha 1
- ENG: endoglin (Osler-Rendu-Weber syndrome 1)
- FIBCD1: encoding protein Fibrinogen C domain containing 1
- FXN: frataxin
- GALT: galactose-1-phosphate uridylyltransferase
- GLE1L: Nucleoporin GLE1
- GRHPR: glyoxylate redasductase/hydroxypyruvate reductase
- IKBKAP: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
- MGC50722: Protein MGC50722, Uncharacterized Protein LOC399693
- TGFBR1: transforming growth factor beta, receptor type I
- TMC1: transmembrane channel-like 1
- TSC1: tuberous sclerosis 1
Diseases and disorders
The following diseases are some of those related to genes on chromosome 9:
- acytosiosis
- ALA-D deficiency porphyria
- citrullinemia
- chronic myelogenous leukemia (t9;22 - the Philadelphia chromosome)
- Diaphyseal Medullary Stenosis with Malignant Fibrous Histiosytoma (DMS-MFH, Hardcastle Syndrome)
- Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, classical type
- familial dysautonomia
- Friedreich ataxia
- galactosemia
- Gorlin syndrome or nevoid basal cell carcinoma syndrome
- hereditary hemorrhagic telangiectasia
- lethal congenital contracture syndrome
- nail-patella syndrome (NPS)
- nonsyndromic deafness
- nonsyndromic deafness, autosomal dominant
- nonsyndromic deafness, autosomal recessive
- OCD
- polycythemia vera
- porphyria
- primary hyperoxaluria
- Tangier's disease
- tetrasomy 9p
- thrombotic thrombocytopenic purpura
- trisomy 9
- tuberous sclerosis
- VLDLR-associated cerebellar hypoplasia
References
- Gilbert F, Kauff N (2001). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 9". Genet Test. 5 (2): 157–74. doi:10.1089/109065701753145664. PMID 11551106.
- Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. doi:10.1038/nature02465. PMC 2734081. PMID 15164053.
- Wicking C, Berkman J, Wainwright B (1994). "Fine genetic mapping of the gene for nevoid basal cell carcinoma syndrome. Chromosome 9". Genomics. 22 (3): 505–11. doi:10.1006/geno.1994.1423. PMID 8001963.
- Mäkelä-Bengs P, Järvinen N, Vuopala K, Suomalainen A, Palotie A, Peltonen L (1997). "The assignment the lethal congenital contracture syndrome (LCCS) locus to chromosome 9q33-34". Am. J. Hum. Genet. 61 (suppl): A30.
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Wikimedia Commons has media related to Human chromosome 9. |
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Human chromosomes
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| Autosome |
- 1
- 2
- 3
- 4
- 5
- 6
- 7
- 8
- 9
- 10
- 11
- 12
- 13
- 14
- 15
- 16
- 17
- 18
- 19
- 20
- 21
- 22
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| Sex chromosome |
- X
- Y
- Pseudoautosomal region
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- ^ a b "Homo sapiens (human) Chromosome 9". NCBI Map Viewer. National Center for Biotechnology Information. Retrieved January 20, 2017.
- ^ a b "Homo sapiens: Chromosome summary: Chromosome 9:1-138394717". Wellcome Trust Sanger Institute. Vega Genome Browser 58. Retrieved January 20, 2017.
- ^ "Table 2.3: Human chromosome groups". Human Molecular Genetics (2nd ed.). Garland Science. 1999.
UpToDate Contents
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English Journal
- Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion.
- Mundhofir FE, Smeets D, Nillesen W, Winarni TI, Yntema HG, de Leeuw N, Hamel BC, Faradz SM, van Bon BW.SourceDepartment of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands; Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine Diponegoro University GSG 2nd floor Jl. Dr. Sutomo 14, Semarang, Indonesia.
- Gene.Gene.2012 Dec 15;511(2):451-4. doi: 10.1016/j.gene.2012.09.018. Epub 2012 Sep 17.
- Pericentric inversions of chromosome 9 leading to unbalanced live-born offspring are relatively rare and so far only four cases have been reported. Here we present two sisters with an unbalanced recombinant chromosome 9 which resulted from a large maternal pericentric inversion inv(9)(p24.3q34.1). F
- PMID 22995347
- VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient.
- van Blitterswijk M, van Es MA, Koppers M, van Rheenen W, Medic J, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH.SourceDepartment of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands.
- Neurobiology of aging.Neurobiol Aging.2012 Dec;33(12):2950.e1-4. doi: 10.1016/j.neurobiolaging.2012.07.004. Epub 2012 Aug 9.
- Previously, we have reported amyotrophic lateral sclerosis (ALS) families with multiple mutations in major ALS-associated genes. These findings provided evidence for an oligogenic basis of ALS. In our present study, we screened a cohort of 755 sporadic ALS patients, 111 familial ALS patients (97 fam
- PMID 22878164
Japanese Journal
- Evolution of sex chromosomes ZW of Schistosoma mansoni inferred from chromosome paint and BAC mapping analyses.
- Hirai Hirohisa,Hirai Yuriko,Loverde Philip T
- Parasitology international 61(4), 684-689, 2012-12
- … We conducted molecular cytogenetic analyses for investigating the sex chromosome evolution using chromosome paint analysis and BAC clones mapping. … To carry this out, we developed a technique for making paint probes of genomic DNA from a single scraped chromosome segment using a chromosome microdissection system, and a FISH mapping technique for BAC clones. …
- NAID 120004873970
- Sexual Dimorphism during Early Embryonic Development in Mammals (Mini-Symposium : Factors Affecting the Sex of Calves and Current and Prospective Sexing Technologies in the Livestock Industry)
- Kimura Koji,Matsuyama Shuichi
- Journal of mammalian ova research 29(3), 103-112, 2012-10
- NAID 40019464225
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