4番染色体、第4染色体、第4番染色体

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"

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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）』「2012/10/17 14:17:06」(JST)

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Chromosome 4 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 4 spans more than 186 million base pairs (the building material of DNA) and represents between 6 and 6.5 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 predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 4 likely contains between 700 and 1,100 genes.

Genes

The following are some of the genes located on chromosome 4:

ANK2: ankyrin 2, neuronal
CRMP1: Collapsin response mediator protein 1, a member of CRMP family
CXCL1: chemokine (C-X-C motif) ligand 1, scyb1
CXCL2: chemokine (C-X-C motif) ligand 2, scyb2
CXCL3: chemokine (C-X-C motif) ligand 3, scyb3
CXCL4: chemokine (C-X-C motif) ligand 4, Platelet factor-4, PF-4, scyb4
CXCL5: chemokine (C-X-C motif) ligand 5, scyb5
CXCL6: chemokine (C-X-C motif) ligand 6, scyb6
CXCL7: chemokine (C-X-C motif) ligand 7, PPBP, scyb7
CXCL8: chemokine (C-X-C motif) ligand 8, interleukin 8 (IL-8), scyb8
CXCL9: chemokine (C-X-C motif) ligand 9, scyb9
CXCL10: chemokine (C-X-C motif) ligand 10, scyb10
CXCL11: chemokine (C-X-C motif) ligand 11, scyb11
CXCL13: chemokine (C-X-C motif) ligand 13, scyb13
DUX4: Thought to be inactive but 2010 research shows a key role in FSHD^[1]
EVC: Ellis van Creveld syndrome
EVC2: Ellis van Creveld syndrome 2 (limbin)
FGFR3: fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism, bladder cancer)
FGFRL1: fibroblast growth factor receptor-like 1
Complement Factor I: Complement Factor I
HTT (Huntingtin): huntingtin protein (Huntington's disease)
MMAA: methylmalonic aciduria (cobalamin deficiency) cblA type
PHOX2B: codes for a homeodomain transcription factor
PKD2: polycystic kidney disease 2 (autosomal dominant)
PLK4
QDPR: quinoid dihydropteridine reductase
SNCA: synuclein, alpha (non A4 component of amyloid precursor)
UCHL1: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
WFS1: Wolfram syndrome 1 (wolframin)
FGF2: Fibroblast growth factor 2 (basic fibroblast growth factor)
KDR: Kinase insert domain receptor (Vascular endothelial growth factor receptor 2)
IGJ: linker protein for immunoglobulin alpha and mu polypeptides
HCL2 (also called RHA or RHC): related to red hair
UNC5C: netrin receptor UNC5C

Diseases & disorders

The following are some of the diseases related to genes located on chromosome 4:

achondroplasia
autosomal dominant polycystic kidney disease (PKD-2)
bladder cancer
Crouzonodermoskeletal syndrome
Chronic Lymphocytic Leukemia
Ellis-van Creveld syndrome
Facioscapulohumeral muscular dystrophy
Fibrodysplasia ossificans progessiva FOP
Hemophilia C
Huntington's disease
Hemolytic Uremic Syndrome
Hirschprung's disease
hypochondroplasia
methylmalonic acidemia
Muenke syndrome
nonsyndromic deafness
nonsyndromic deafness, autosomal dominant
Ondine's Curse
Parkinsons disease
polycystic kidney disease
Romano-Ward syndrome
SADDAN
tetrahydrobiopterin deficiency
thanatophoric dysplasia
thanatophoric dysplasia, type 1
thanatophoric dysplasia, type 2
Wolfram syndrome

References

Goldfrank D, Schoenberger E, Gilbert F (2003). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 4". Genet Test 7 (4): 351–72. doi:10.1089/109065703322783752. PMID 15000816.
Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Lou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinawalla AT, Teddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Pork P, Suyama M, Torrents D, Waterston RH, Wilson RK (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature 434 (7034): 724–31. doi:10.1038/nature03466. PMID 15815621.

^ Lemmers, Richard; Patrick J. van der Vliet, Rinse Klooster, Sabrina Sacconi, Pilar Camaño, Johannes G. Dauwerse, Lauren Snider, Kirsten R. Straasheijm, Gert Jan van Ommen, George W. Padberg, Daniel G. Miller, Stephen J. Tapscott, Rabi Tawil, Rune R. Frants, and Silvère M. van der Maarel (19 August 2010). "A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy". Science 329 (5999): 1650–3. doi:10.1126/science.1189044. PMID 20724583. http://www.sciencemag.org/cgi/content/abstract/science.1189044.

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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. 性染色体異常 sex chromosome abnormalities
3. 微細欠失症候群（1番～11番染色体） microdeletion syndromes chromosomes 1 to 11
4. 先天性の細胞遺伝学的異常 congenital cytogenetic abnormalities
5. 遺伝性疾患の基本原則 basic principles of genetic disease

English Journal

Association between common alcohol dehydrogenase gene (ADH) variants and schizophrenia and autism.

Zuo L, Wang K, Zhang XY, Pan X, Wang G, Tan Y, Zhong C, Krystal JH, State M, Zhang H, Luo X.SourceDepartment of Psychiatry, Yale University School of Medicine, New Haven, CT 06516, USA, Lingjun.Zuo@yale.edu.
Human genetics.Hum Genet.2013 Jul;132(7):735-43. doi: 10.1007/s00439-013-1277-4. Epub 2013 Mar 7.
Humans express at least seven alcohol dehydrogenase (ADH) isoforms that are encoded by ADH gene cluster (ADH7-ADH1C-ADH1B-ADH1A-ADH6-ADH4-ADH5) at chromosome 4. ADHs are key catabolic enzymes for retinol and ethanol. The functional ADH variants (mostly rare) have been implicated in alcoholism risk.
PMID 23468174

Genetic identification of a novel locus, ACCELERATED FLOWERING 1 that controls chromatin modification associated with histone H3 lysine 27 trimethylation in Arabidopsis thaliana.

Lee S, Shin K, Lee I, Song HR, Noh YS, Lee RA, Lee S, Kim SY, Park SK, Lee S, Soh MS.SourceDepartment of Molecular Biology, College of Life Science, Sejong University, Seoul 143-747, Republic of Korea.
Plant science : an international journal of experimental plant biology.Plant Sci.2013 Jul;208:20-7. doi: 10.1016/j.plantsci.2013.03.009. Epub 2013 Mar 21.
Flowering on time is a critically important for successful reproduction of plants. Here we report an early-flowering mutant in Arabidopsis thaliana, accelerated flowering 1-1D (afl1-1D) that exhibited pleiotropic developmental defects including semi-dwarfism, curly leaf, and increased branching. Gen
PMID 23683925

Overdosage of Hand2 causes limb and heart defects in the human chromosomal disorder partial trisomy distal 4q.

Tamura M, Hosoya M, Fujita M, Iida T, Amano T, Maeno A, Kataoka T, Otsuka T, Tanaka S, Tomizawa S, Shiroishi T.AbstractPartial trisomy distal 4q (denoted 4q+) is a human chromosomal disorder caused by duplication of the distal end of the long arm of chromosome 4 (Chr4). This disorder manifests typical phenotypes, including craniofacial, renal, heart and thumb developmental defects. Although these clinical features are likely caused by a dosage imbalance in the gene network involving the trisomic region, the causative gene or genes and the molecular bases are largely unknown. Here, we report mouse Recombination-induced mutation 4 (Rim4) as a model animal of 4q+. The Rim4 genome contains an insertion of a 6.5 Mb fragment from mouse chromosome 8 into chromosome 6. This insertion fragment contains 17 genes, including Hand2, that encode the basic helix-loop-helix transcription factor and is syntenic to the distal end of human Chr4, 4q32.3 to 4q34.1, which is responsible for 4q+. A comparison of phenotypes between patients with Rim4 and 4q+ revealed that Rim4 shows direct parallels with many phenotypes of 4q+ such as craniofacial, heart, cervical vertebra and limb deformities. Rebalancing the gene dosage by a genetic cross with Hand2 knockout mice ameliorated symptoms of the heart and limb deformities of Rim4. Conversely, an increase in copy number of Hand2 in wild-type mice recaptures the heart and limb deformities of Rim4. Our results collectively demonstrate that overdosage of Hand2 is a major cause for at least the limb and heart phenotypes of 4q+ and that mouse Rim4 provides a unique animal model for understanding the molecular bases underlying the complex phenotypes of 4q+.
Human molecular genetics.Hum Mol Genet.2013 Jun 15;22(12):2471-81. doi: 10.1093/hmg/ddt099. Epub 2013 Feb 27.
Partial trisomy distal 4q (denoted 4q+) is a human chromosomal disorder caused by duplication of the distal end of the long arm of chromosome 4 (Chr4). This disorder manifests typical phenotypes, including craniofacial, renal, heart and thumb developmental defects. Although these clinical features a
PMID 23449628