Chromosome 4 (human)

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

Diseases & disorders

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

• achondroplasia
• 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. 

1. ^ 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.