4号染色体（Chromosome 4）

人类细胞通常含有46条染色体，分为23对。4号染色体有两条拷贝，分别从父母各遗传一条，构成其中的一对。4号染色体包含约1.91亿个DNA建筑块(核苷酸)，占细胞总DNA含量的6%以上。

识别每条染色体上的基因是遗传学研究的一个活跃领域。由于研究人员使用不同的方法来预测每条染色体上的基因数量，所以估计的基因数量各不相同。4号染色体可能包含1,000到1,100个负责提供蛋白质合成指令的基因。这些蛋白质在人体中执行各种不同的功能。

参考文献

Bergemann AD, Cole F, Hirschhorn K. The etiology of Wolf-Hirschhorn syndrome. Trends Genet. 2005 Mar;21(3):188-95. doi: 10.1016/j.tig.2005.01.008. Citation on PubMed

Buitenhuis M, Verhagen LP, Cools J, Coffer PJ. Molecular mechanisms underlying FIP1L1-PDGFRA-mediated myeloproliferation. Cancer Res. 2007 Apr 15;67(8):3759-66. doi: 10.¹¹⁵⁸⁄₀₀₀₈-5472.CAN-06-4183. Citation on PubMed

Chen CP, Chern SR, Lee CC, Chang TY, Wang W, Tzen CY. Clinical, cytogenetic, and molecular findings of prenatally diagnosed mosaic trisomy 4. Prenat Diagn. 2004 Jan;24(1):38-44. doi: 10.1002/pd.792. Citation on PubMed

Cools J, DeAngelo DJ, Gotlib J, Stover EH, Legare RD, Cortes J, Kutok J, Clark J, Galinsky I, Griffin JD, Cross NC, Tefferi A, Malone J, Alam R, Schrier SL, Schmid J, Rose M, Vandenberghe P, Verhoef G, Boogaerts M, Wlodarska I, Kantarjian H, Marynen P, Coutre SE, Stone R, Gilliland DG. A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. N Engl J Med. 2003 Mar 27;348(13):1201-14. doi: 10.1056/NEJMoa025217. Citation on PubMed

Ensembl Human Map View

Goldfrank D, Schoenberger E, Gilbert F. Disease genes and chromosomes: disease maps of the human genome. Chromosome 4. Genet Test. 2003 Winter;7(4):351-72. doi: 10.¹⁰⁸⁹⁄_{109065703322783752}. No abstract available. Citation on PubMed

Hayne CC, Winer E, Williams T, Chaves F, Khorsand J, Mark HF. Acute lymphoblastic leukemia with 4;11 translocation analyzed by a multi-modal strategy of conventional cytogenetics, FISH, morphology, flow cytometry and molecular genetics, and review of the literature. Exp Mol Pathol. 2006 Aug;81(1):62-71. doi: 10.1016/j.yexmp.2006.04.002. Epub 2006 Jun 12. Citation on PubMed

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, Hou 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, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. doi: 10.1038/nature03466. Citation on PubMed

Keats JJ, Maxwell CA, Taylor BJ, Hendzel MJ, Chesi M, Bergsagel PL, Larratt LM, Mant MJ, Reiman T, Belch AR, Pilarski LM. Overexpression of transcripts originating from the MMSET locus characterizes all t(4;14)(p16;q32)-positive multiple myeloma patients. Blood. 2005 May 15;105(10):4060-9. doi: 10.1182/blood-2004-09-3704. Epub 2005 Jan 27. Citation on PubMed or Free article on PubMed Central
Keats JJ, Reiman T, Belch AR, Pilarski LM. Ten years and counting: so what do we know about t(4;14)(p16;q32) multiple myeloma. Leuk Lymphoma. 2006 Nov;47(11):2289-300. doi: 10.¹⁰⁸⁰⁄_{10428190600822128}. Citation on PubMed

Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camano P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM. A unifying genetic model for facioscapulohumeral muscular dystrophy. Science. 2010 Sep 24;329(5999):1650-3. doi: 10.1126/science.1189044. Epub 2010 Aug 19. Citation on PubMed or Free article on PubMed Central

Lundin C, Zech L, Sjors K, Wadelius C, Anneren G. Trisomy 4q syndrome: presentation of a new case and review of the literature. Ann Genet. 2002 Apr-Jun;45(2):53-7. doi: 10.1016/s0003-3995(02)01117-6. Citation on PubMed

South ST, Hannes F, Fisch GS, Vermeesch JR, Zollino M. Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3. Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):270-4. doi: 10.1002/ajmg.c.30188. Citation on PubMed

Tawil R, van der Maarel SM, Tapscott SJ. Facioscapulohumeral dystrophy: the path to consensus on pathophysiology. Skelet Muscle. 2014 Jun 10;4:12. doi: 10.¹¹⁸⁶⁄₂₀₄₄-5040-4-12. eCollection 2014. Citation on PubMed or Free article on PubMed Central

UCSC Genome Browser: Statistics

Zollino M, Lecce R, Fischetto R, Murdolo M, Faravelli F, Selicorni A, Butte C, Memo L, Capovilla G, Neri G. Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet. 2003 Mar;72(3):590-7. doi: 10.¹⁰⁸⁶⁄₃₆₇₉₂₅. Epub 2003 Jan 30. Citation on PubMed or Free article on PubMed Central

Zollino M, Murdolo M, Marangi G, Pecile V, Galasso C, Mazzanti L, Neri G. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):257-69. doi: 10.1002/ajmg.c.30190. Citation on PubMed