Information about Chromosome 7

Chromosome 7 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 7 spans more than 158 million base pairs (the building material of DNA) and represents between 5 and 5.5 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 7 likely contains between 1,000 and 1,400 genes. It also contains the Homeobox A gene cluster.

Genes

The following are some of the genes located on chromosome 7:

• ASL: argininosuccinate lyase
• CBX3: chromobox homolog 3
• CCL24: Chemokine (C-C motif) ligand 24 (scya24)
• CCL26: Chemokine (C-C motif) ligand 26 (scya26)
• CCM2: cerebral cavernous malformation 2
• CGRP-RCP: calcitonin gene-related peptide receptor component protein
• CFTR: cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)
• COL1A2: collagen, type I, alpha 2
• CYLN2: cytoplasmic linker 2
• DFNA5: deafness, autosomal dominant 5
• DLD: dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)
• ELN: elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)
• FOXP2: Forkhead box protein 2
• GARS: glycyl-tRNA synthetase
• GTF2I: general transcription factor II, i
• GTF2IRD1: GTF2I repeat domain containing 1
• GUSB: beta-glucuronidase
• HSPB1: heat shock 27kDa protein 1
• KCNH2: potassium voltage-gated channel, subfamily H (eag-related), member 2
• KRIT1: KRIT1, ankyrin repeat containing
• LIMK1: LIM domain kinase 1
• NOS3: nitric oxide synthase 3 (endothelial cell)
• p47 phox or NCF1: 47 kDa neutrophil oxidase factor / neutrophil cytosol factor 1
• PMS2: PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
• RELN: reelin
• SBDS: Shwachman-Bodian-Diamond syndrome
• SLC25A13: solute carrier family 25, member 13 (citrin)
• SLC26A4: solute carrier family 26, member 4
• TAS2R16: taste receptor, type 2, member 16
• TFR2: transferrin receptor 2
• TPST1: tyrosylprotein sulfotransferase 1

Diseases & disorders

The following diseases are some of those related to genes on chromosome 7:

• argininosuccinic aciduria
• cerebral cavernous malformation
• Charcot-Marie-Tooth disease
• Charcot-Marie-Tooth disease, type 2
• citrullinemia
• congenital bilateral absence of vas deferens
• cystic fibrosis
• distal spinal muscular atrophy, type V
• Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome, arthrochalasia type
• Ehlers-Danlos syndrome, classical type
• hemochromatosis
• hemochromatosis, type 3
• hereditary nonpolyposis colorectal cancer
• lissencephaly
• maple syrup urine disease
• maturity onset diabetes of the young type 2
• mucopolysaccharidosis type VII or Sly syndrome
• myelodysplastic syndrome
• nonsyndromic deafness
• nonsyndromic deafness, autosomal dominant
• nonsyndromic deafness, autosomal recessive
• osteogenesis imperfecta
• osteogenesis imperfecta, type I
• osteogenesis imperfecta, type II
• osteogenesis imperfecta, type III
• osteogenesis imperfecta, type IV
• p47-phox-deficient chronic granulomatous disease
• Pendred syndrome
• Romano-Ward syndrome
• Shwachman-Diamond syndrome
• Williams syndrome

Chromosomal disorders

The following conditions are caused by changes in the structure or number of copies of chromosome 7:

• Williams syndrome is caused by the deletion of genetic material from a portion of the long (q) arm of chromosome 7. The deleted region, which is located at position 11.23 (written as 7q11.23), is designated as the Williams syndrome critical region. This region includes more than 20 genes, and researchers believe that the characteristic features of Williams syndrome are probably related to the loss of multiple genes in this region.

While a few of the specific genes related to Williams syndrome have been identified, the relationship between most of the genes in the deleted region and the signs and symptoms of Williams syndrome is unknown.

• Other changes in the number or structure of chromosome 7 can cause delayed growth and development, mental retardation, characteristic facial features, skeletal abnormalities, delayed speech, and other medical problems. These changes include an extra copy of part of chromosome 7 in each cell (partial trisomy 7) or a missing segment of the chromosome in each cell (partial monosomy 7). In some cases, several DNA building blocks (nucleotides) are deleted or duplicated in part of chromosome 7. A circular structure called ring chromosome 7 is also possible. A ring chromosome occurs when both ends of a broken chromosome are reunited.

References

• Gilbert F (2002). "Chromosome 7". Genet Test 6 (2): 141-61. PMID 12215256. 
• Hillier LW, Fulton RS, Fulton LA, Graves TA, Pepin KH, Wagner-McPherson C, Layman D, Maas J, Jaeger S, Walker R, Wylie K, Sekhon M, Becker MC, O'Laughlin MD, Schaller ME, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Cordes M, Du H, Sun H, Edwards J, Bradshaw-Cordum H, Ali J, Andrews S, Isak A, Vanbrunt A, Nguyen C, Du F, Lamar B, Courtney L, Kalicki J, Ozersky P, Bielicki L, Scott K, Holmes A, Harkins R, Harris A, Strong CM, Hou S, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Leonard S, Rohlfing T, Rock SM, Tin-Wollam AM, Abbott A, Minx P, Maupin R, Strowmatt C, Latreille P, Miller N, Johnson D, Murray J, Woessner JP, Wendl MC, Yang SP, Schultz BR, Wallis JW, Spieth J, Bieri TA, Nelson JO, Berkowicz N, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Bedell JA, Mardis ER, Clifton SW, Chissoe SL, Marra MA, Raymond C, Haugen E, Gillett W, Zhou Y, James R, Phelps K, Iadanoto S, Bubb K, Simms E, Levy R, Clendenning J, Kaul R, Kent WJ, Furey TS, Baertsch RA, Brent MR, Keibler E, Flicek P, Bork P, Suyama M, Bailey JA, Portnoy ME, Torrents D, Chinwalla AT, Gish WR, Eddy SR, McPherson JD, Olson MV, Eichler EE, Green ED, Waterston RH, Wilson RK (2003). "The DNA sequence of human chromosome 7". Nature 424 (6945): 157-64. PMID 12853948. 
• Lichtenbelt KD, Hochstenbach R, van Dam WM, Eleveld MJ, Poot M, Beemer FA (2005). "Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotype". Am J Med Genet A 132 (1): 93-100. PMID 15580634. 
• Rodriguez L, Lopez F, Paisan L, de la Red Mdel M, Ruiz AM, Blanco M, Antelo Cortizas J, Martinez-Frias ML (2002). "Pure partial trisomy 7q: two new patients and review". Am J Med Genet 113 (2): 218-24. PMID 12407716. 
• Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Dohner H, Dohner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC (2003). "Human chromosome 7: DNA sequence and biology". Science 300 (5620): 767-72. PMID 12690205. 
• Velagaleti GV, Jalal SM, Kukolich MK, Lockhart LH, Tonk VS (2002). "De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature". Clin Genet 61 (3): 202-6. PMID 12000362. 

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