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Chromosome 7

From Wikipedia, the free encyclopedia
Chromosome 7
Human chromosome 7 pair after G-banding.
One is from mother, one is from father.
Chromosome 7 pair
in human male karyogram.
Features
Length (bp)160,567,428 bp
(CHM13)
No. of genes862 (CCDS)[1]
TypeAutosome
Centromere positionSubmetacentric[2]
(60.1 Mbp[3])
Complete gene lists
CCDSGene list
HGNCGene list
UniProtGene list
NCBIGene list
External map viewers
EnsemblChromosome 7
EntrezChromosome 7
NCBIChromosome 7
UCSCChromosome 7
Full DNA sequences
RefSeqNC_000007 (FASTA)
GenBankCM000669 (FASTA)

Chromosome 7 is one of the 23 pairs of chromosomes in humans, who normally have two copies of this chromosome. Chromosome 7 spans about 160 million[4] base pairs (the building material of DNA) and represents between 5 and 5.5 percent of the total DNA in cells.

Genes

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Number of genes

[edit]

The following are some of the gene count estimates of human chromosome 7. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.[5]

Estimated by Protein-coding genes Non-coding RNA genes Pseudogenes Source Release date
CCDS 862 — — [1] 2016-09-08
HGNC 870 245 703 [6] 2017-05-12
Ensembl 984 973 889 [7] 2017-03-29
UniProt 944 — — [8] 2018-02-28
NCBI 948 905 933 [9][10][11] 2017-05-19

Gene list

[edit]
See also: Category:Genes on human chromosome 7

The following is a partial list of genes on human chromosome 7. For complete list, see the link in the infobox on the right.

  • AASS: encoding enzyme Alpha-aminoadipic semialdehyde synthase, mitochondrial
  • ACTR3B: actin-related protein 3B
  • AEBP1: AE binding protein 1
  • AGK: encoding enzyme mitochondrial acylglycerol kinase
  • ARHGEF35: encoding protein Rho guanine nucleotide exchange factor (GEF) 35
  • AVL9: encoding protein Avl9 cell migration associated
  • BCAP29: B-cell receptor-associated protein 29
  • BCC6: encoding protein basal cell carcinoma, susceptibility to, 6
  • BRAT1: BRCA1-associated ATM activator 1
  • C7orf25: protein UPF0415
  • C7orf31: chromosome 7 open reading frame 31
  • CALU: Calumenin
  • CCL24: encoding protein C-C motif chemokine ligand 24
  • CDCA7L: Cell division cycle-associated 7-like protein
  • CFTR: anion channel membrane protein
  • CNOT4: CCR4-NOT transcription complex, subunit 4
  • CPED1: cadherin like and PC-esterase domain containing 1
  • CPVL: carboxypeptidase, vitellogenic like
  • CROT: Peroxisomal carnitine O-octanoyltransferase
  • DDX56: DEAD-box helicase 56
  • DMTF1: Cyclin D binding myb like transcription factor 1
  • ECOP: EGFR-coamplified and overexpressed protein
  • EEPD1: encoding protein Endonuclease/exonuclease/phosphatase family domain containing 1
  • EGFR-AS1: encoding protein EGFR antisense RNA 1
  • EZH2: encoding enzyme histone-lysine N-methyltransferase for histone h3 lysine 27
  • FAM71F2: family with sequence similarity 71 member F2
  • FAM185A: family with sequence similarity 185 member A
  • FAM200A: family with sequence similarity 200 member A
  • FBXO24: F-box only protein 24
  • GBAS: Glioblastoma amplified sequence; Protein NipSnap homolog 2
  • GET4: encoding protein GET4
  • GLCCI1: Glucocorticoid-induced transcript 1 protein
  • HOXA@: encoding protein Homeobox a cluster
  • HOXA10-HOXA9: readthrough gene unlikely to produce a protein product
  • HPC4: Prostate cancer, hereditary, 4
  • ICA1: islet cell autoantigen 1
  • ING3: inhibitor of growth protein 3
  • INTS1: encoding protein Integrator complex subunit 1
  • IQCE: IQ domain-containing protein E
  • KDM7A: encoding protein Lysine demethylase 7A
  • LCHN: protein encoded by the KIAA1147 gene
  • LHFPL3: LHFPL tetraspan subfamily member 3
  • LINC01003: encoding long intergenic non-protein coding RNA 1003
  • LRRC17: leucine-rich repeat containing protein 17
  • LRRC61: encoding protein Leucine rich repeat containing 61
  • LRRD1: encoding protein Leucine-rich repeats and death domain containing 1
  • LSM5: U6 small nuclear RNA and mRNA degradation associated
  • LUC7L2: putative RNA-binding protein Luc7-like 2
  • MACC1: encoding protein Macc1, met transcriptional regulator
  • MAP11: encoding protein Microtubule-associated protein 11
  • MDFIC: MyoD family inhibitor domain containing
  • METTL2B: methyltransferase-like protein 2B
  • MINDY4: MINDY lysine 48 deubiquitinase 4
  • MIR93: encoding protein MicroRNA 93
  • MIR148A: encoding protein MicroRNA 148a
  • MIR196B: encoding protein MicroRNA 196b
  • MIR548F4: encoding protein MicroRNA 548f-4
  • MIR96: microRNA 96
  • MOSPD3: motile sperm domain containing 3
  • MTERF: mitochondrial transcription termination factor 1
  • MTRNR2L6: encoding protein MT-RNR2-like 6
  • NOM1: nucleolar protein with MIF4G domain 1
  • NUDCD3: NudC domain-containing protein 3
  • NUPL2: nucleoporin-like 2
  • NXPH1: neurexophilin-1
  • OPN1SW: blue-sensitive opsin
  • PDAP1: PDGFA associated protein 1
  • PHTF2: putative homeodomain transcription factor 2
  • PLOD3: procollagen-lysine,2-oxoglutarate 5-dioxygenase 3
  • POM121: POM121 transmembrane nucleoporin
  • POP7: ribonuclease P protein subunit p20
  • PPP1R17: protein phosphatase 1 regulatory subunit 17
  • PSPH: phosphoserine phosphatase
  • PURB: purine-rich element binding protein B
  • PVRIG: encoding protein Poliovirus receptor related immunoglobulin domain containing
  • RADIL: ras-associating and dilute domain-containing protein
  • RASA4B: encoding protein RAS p21 protein activator 4B
  • RCP9: DNA-directed RNA polymerase III subunit RCP9
  • REPIN1: replication initiator 1
  • RNF216-IT1: encoding protein RNF216 intronic transcript 1
  • SCIN: scinderin
  • SCRN1: secernin 1
  • SEMA3E: encoding protein Semaphorin 3E
  • SOSTDC1: sclerostin domain containing 1
  • SPDYE1: speedy/RINGO cell cycle regulator family member E1
  • SSC4D: scavenger receptor cysteine rich family member with 4 domains
  • STEAP1: six transmembrane epithelial antigen of the prostate 1
  • STEAP2: six transmembrane epithelial antigen of the prostate 2
  • STEAP4: six transmembrane epithelial antigen of the prostate 4
  • STYXL1: serine/threonine/tyrosine-interacting-like protein 1
  • SUMF2: sulatase-modifying factor 2
  • SYPL1: synaptophysin-like protein 1
  • TARP: TCR gamma alternate reading frame protein
  • TBRG4: transforming growth factor beta regulator 4
  • TECPR1 encoding protein Tectonin beta-propeller repeat containing 1
  • TMED4: transmembrane emp24 domain-containing protein 4
  • TMEM130: transmembrane protein 130
  • TMEM196 encoding protein Transmembrane protein 196
  • TMEM243: encoding protein Transmembrane protein 243
  • TNRC18: encoding protein Trinucleotide repeat containing 18
  • TRBC1 encoding protein T cell receptor beta constant 1
  • TRBC2 encoding protein T cell receptor beta constant 2
  • TRGV1: encoding protein T cell receptor gamma variable 1 (non-functional)
  • TRIL: TRL4 interactor with leucine rich repeats
  • UPK3B: encoding protein Uroplakin 3B
  • URG4: up-regulated gene 4
  • WBSCR17: polypeptide N-acetylgalactosaminyltransferase 17
  • WDR91 encoding protein WD repeat domain 91
  • WEE2-AS1: encoding protein WEE2 antisense RNA 1
  • XKR5: encoding protein XK, Kell blood group complex subunit-related family, member 5
  • ZC3HAV1: zinc finger CCCH-type containing
  • ZC3HC1: zinc finger C3HC-type containing 1
  • ZNF106: encoding protein Zinc finger protein 106
  • ZNF117: encoding protein Zinc finger protein 117
  • ZNF394: zinc finger protein 394
  • ZNF398: zinc finger protein 398
  • ZNF679: encoding protein Zinc finger protein 679
  • ZNF716: encoding protein Zinc finger protein 716
  • ZNF727: encoding protein Zinc finger protein 727
  • ZNF786: encoding protein Zinc finger protein 786
  • ZNF853: encoding protein Zinc finger protein 853
  • ZKSCAN1: zinc finger protein with KRAB and SCAN domains 1
  • ZKSCAN5: zinc finger protein with KRAB and SCAN domains 5
  • ZMIZ2: zinc finger MIZ domain-containing protein 2
  • ZNF277P: zinc finger protein 277
  • ZRF1: DnaJ heat shock protein family (Hsp40) member C2
  • ZSCAN21: zinc finger and SCAN domain-containing protein 21

Diseases and disorders

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

Chromosomal disorders

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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 disorder, 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.[24]

Cytogenetic band

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G-banding ideograms of human chromosome 7
G-banding ideogram of human chromosome 7 in resolution 850 bphs. Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e.g. Ensembl, UCSC Genome Browser).
G-banding patterns of human chromosome 7 in three different resolutions (400,[25] 550[26] and 850[3]). Band length in this diagram is based on the ideograms from ISCN (2013).[27] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process.[28]
G-bands of human chromosome 7 in resolution 850 bphs[3]
Chr. Arm[29] Band[30] ISCN
start[31] 		ISCN
stop[31] 		Basepair
start 		Basepair
stop 		Stain[32] Density
7 p 22.3 0 227 1 2,800,000 gneg
7 p 22.2 227 397 2,800,001 4,500,000 gpos 25
7 p 22.1 397 610 4,500,001 7,200,000 gneg
7 p 21.3 610 908 7,200,001 13,700,000 gpos 100
7 p 21.2 908 965 13,700,001 16,500,000 gneg
7 p 21.1 965 1121 16,500,001 20,900,000 gpos 100
7 p 15.3 1121 1419 20,900,001 25,500,000 gneg
7 p 15.2 1419 1589 25,500,001 27,900,000 gpos 50
7 p 15.1 1589 1816 27,900,001 28,800,000 gneg
7 p 14.3 1816 1986 28,800,001 34,900,000 gpos 75
7 p 14.2 1986 2043 34,900,001 37,100,000 gneg
7 p 14.1 2043 2327 37,100,001 43,300,000 gpos 75
7 p 13 2327 2639 43,300,001 45,400,000 gneg
7 p 12.3 2639 2838 45,400,001 49,000,000 gpos 75
7 p 12.2 2838 2909 49,000,001 50,500,000 gneg
7 p 12.1 2909 3093 50,500,001 53,900,000 gpos 75
7 p 11.2 3093 3306 53,900,001 58,100,000 gneg
7 p 11.1 3306 3448 58,100,001 60,100,000 acen
7 q 11.1 3448 3689 60,100,001 62,100,000 acen
7 q 11.21 3689 3973 62,100,001 67,500,000 gneg
7 q 11.22 3973 4171 67,500,001 72,700,000 gpos 50
7 q 11.23 4171 4597 72,700,001 77,900,000 gneg
7 q 21.11 4597 4994 77,900,001 86,700,000 gpos 100
7 q 21.12 4994 5108 86,700,001 88,500,000 gneg
7 q 21.13 5108 5292 88,500,001 91,500,000 gpos 75
7 q 21.2 5292 5406 91,500,001 93,300,000 gneg
7 q 21.3 5406 5661 93,300,001 98,400,000 gpos 75
7 q 22.1 5661 6129 98,400,001 104,200,000 gneg
7 q 22.2 6129 6300 104,200,001 104,900,000 gpos 50
7 q 22.3 6300 6470 104,900,001 107,800,000 gneg
7 q 31.1 6470 6683 107,800,001 115,000,000 gpos 75
7 q 31.2 6683 6867 115,000,001 117,700,000 gneg
7 q 31.31 6867 7094 117,700,001 121,400,000 gpos 75
7 q 31.32 7094 7208 121,400,001 124,100,000 gneg
7 q 31.33 7208 7364 124,100,001 127,500,000 gpos 75
7 q 32.1 7364 7449 127,500,001 129,600,000 gneg
7 q 32.2 7449 7576 129,600,001 130,800,000 gpos 25
7 q 32.3 7576 7803 130,800,001 132,900,000 gneg
7 q 33 7803 8031 132,900,001 138,500,000 gpos 50
7 q 34 8031 8371 138,500,001 143,400,000 gneg
7 q 35 8371 8612 143,400,001 148,200,000 gpos 75
7 q 36.1 8612 8910 148,200,001 152,800,000 gneg
7 q 36.2 8910 9080 152,800,001 155,200,000 gpos 25
7 q 36.3 9080 9350 155,200,001 159,345,973 gneg
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Novels

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In the novel Performance Anomalies, researchers at Stanford University identify mutations in the long (q) arm of chromosome 7 as underlying the accelerated nervous system of the spy protagonist Cono,[33] who receives the moniker Cono 7Q

References

[edit]
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  2. ^ Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics. Garland Science. p. 45. ISBN 978-1-136-84407-2.
  3. ^ a b c Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
  4. ^ What is chromosome 7, "Genetics Home Reference" of U.S. National Library of Medicine. April 2008. [2014-05-14].
  5. ^ Pertea M, Salzberg SL (2010). "Between a chicken and a grape: estimating the number of human genes". Genome Biol. 11 (5): 206. doi:10.1186/gb-2010-11-5-206. PMC 2898077. PMID 20441615.
  6. ^ "Statistics & Downloads for chromosome 7". HUGO Gene Nomenclature Committee. 2017-05-12. Archived from the original on 2017-06-29. Retrieved 2017-05-19.
  7. ^ "Chromosome 7: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19.
  8. ^ "Human chromosome 7: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Retrieved 2018-03-16.
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  14. ^ Nagamani SC, Erez A, Lee B (May 2012). "Argininosuccinate lyase deficiency". Genetics in Medicine. 14 (5): 501–507. doi:10.1038/gim.2011.1. PMC 3709024. PMID 22241104.
  15. ^ a b c d Gilbert F (2002). "Chromosome 7". Genetic Testing. 6 (2): 141–161. doi:10.1089/10906570260199429. PMID 12215256.
  16. ^ a b 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 (Jul 2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–164. Bibcode:2003Natur.424..157H. doi:10.1038/nature01782. PMID 12853948.</bn>Lichtenbelt KD, Hochstenbach R, van Dam WM, Eleveld MJ, Poot M, Beemer FA (Jan 2005). "Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotype" (PDF). American Journal of Medical Genetics Part A. 132A (1): 93–100. doi:10.1002/ajmg.a.30408. PMID 15580634. S2CID 20178860. Archived from the original (PDF) on 2013-12-17. Retrieved 2017-01-20.
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  19. ^ Lossin C, George AL (2008). Chapter 2 Myotonia Congenita. Advances in Genetics. Vol. 63. pp. 25–55. doi:10.1016/S0065-2660(08)01002-X. ISBN 9780123745279. PMID 19185184.
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  21. ^ Eggermann T, Begemann M, Binder G, Spengler S (2010). "Silver-Russell syndrome: genetic basis and molecular genetic testing". Orphanet Journal of Rare Diseases. 5: 19. doi:10.1186/1750-1172-5-19. PMC 2907323. PMID 20573229.
  22. ^ Zarchi O, Attias J, Gothelf D (2010). "Auditory and visual processing in Williams syndrome". The Israel Journal of Psychiatry and Related Sciences. 47 (2): 125–131. PMID 20733255.
  23. ^ Steinberg, Steven J; Raymond, Gerald V; Braverman, Nancy E; Moser, Ann B (2017). "Zellweger Spectrum Disorder". GeneReviews®. University of Washington, Seattle. PMID 20301621. Retrieved 2019-09-17.
  24. ^ Velagaleti GV, Jalal SM, Kukolich MK, Lockhart LH, Tonk VS (Mar 2002). "De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature". Clinical Genetics. 61 (3): 202–206. doi:10.1034/j.1399-0004.2002.610306.x. PMID 12000362. S2CID 33574584.
  25. ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3). Last update 2014-03-04. Retrieved 2017-04-26.
  26. ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3). Last update 2015-08-11. Retrieved 2017-04-26.
  27. ^ International Standing Committee on Human Cytogenetic Nomenclature (2013). ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013). Karger Medical and Scientific Publishers. ISBN 978-3-318-02253-7.
  28. ^ Sethakulvichai, W.; Manitpornsut, S.; Wiboonrat, M.; Lilakiatsakun, W.; Assawamakin, A.; Tongsima, S. (2012). "Estimation of band level resolutions of human chromosome images". 2012 Ninth International Conference on Computer Science and Software Engineering (JCSSE). pp. 276–282. doi:10.1109/JCSSE.2012.6261965. ISBN 978-1-4673-1921-8. S2CID 16666470.
  29. ^ "p": Short arm; "q": Long arm.
  30. ^ For cytogenetic banding nomenclature, see article locus.
  31. ^ a b These values (ISCN start/stop) are based on the length of bands/ideograms from the ISCN book, An International System for Human Cytogenetic Nomenclature (2013). Arbitrary unit.
  32. ^ gpos: Region which is positively stained by G banding, generally AT-rich and gene poor; gneg: Region which is negatively stained by G banding, generally CG-rich and gene rich; acen Centromere. var: Variable region; stalk: Stalk.
  33. ^ Lee, Victor Robert (2013-01-15). Performance Anomalies: A Novel. Perimeter Six Press. ISBN 9781938409202.

Further reading

[edit]
  • Rodríguez L, López F, Paisán L, de la Red Mdel M, Ruiz AM, Blanco M, Antelo Cortizas J, Martínez-Frías ML (Nov 2002). "Pure partial trisomy 7q: two new patients and review". American Journal of Medical Genetics. 113 (2): 218–224. doi:10.1002/ajmg.10719. PMID 12407716.
[edit]
Wikimedia Commons has media related to Human chromosome 7.
  • National Institutes of Health. "Chromosome 7". Genetics Home Reference. Archived from the original on August 3, 2004. Retrieved 2017-05-06.
  • "Chromosome 7". Human Genome Project Information Archive 1990–2003. Retrieved 2017-05-06.
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