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chromosome 7

{{Short description|Human chromosome}}

{{More citations needed|date=September 2024}}

{{Infobox chromosome

| image = Human male karyotpe high resolution - Chromosome 7 cropped.png

| caption = Human chromosome 7 pair after G-banding.
One is from mother, one is from father.

| image2 = Human male karyotpe high resolution - Chromosome 7.png

| caption2 = Chromosome 7 pair
in human male karyogram.

| length_bp = 160,567,428 bp
(CHM13)

| genes = 862 (CCDS)

| type = Autosome

| centromere_position = Submetacentric{{cite book|author1=Tom Strachan|author2=Andrew Read|title=Human Molecular Genetics|url=https://books.google.com/books?id=dSwWBAAAQBAJ&pg=PA45|date=2 April 2010|publisher=Garland Science|isbn=978-1-136-84407-2|page=45}}
(60.1 MbpGenome Decoration Page, NCBI. [http://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_850_V1 Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3)]. Last update 2014-06-03. Retrieved 2017-04-26.)

| chr = 7

| ensembl_id = 7

| entrez_id = 7

| ncbi_id = 7

| ucsc_id = 7

| refseq_id = NC_000007

| genbank_id = CM000669

}}

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[http://ghr.nlm.nih.gov/chromosome/7 What is chromosome 7], "Genetics Home Reference" of U.S. National Library of Medicine. April 2008. [2014-05-14]. base pairs (the building material of DNA) and represents between 5 and 5.5 percent of the total DNA in cells.

Genes

= Number of genes =

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.{{cite journal| author=Pertea M, Salzberg SL| title=Between a chicken and a grape: estimating the number of human genes. | journal=Genome Biol | year= 2010 | volume= 11 | issue= 5 | pages= 206 | pmid=20441615 | doi=10.1186/gb-2010-11-5-206 | pmc=2898077 | doi-access=free }}

class="wikitable" style="text-align:right"
Estimated by

! Protein-coding genes

! Non-coding RNA genes

! Pseudogenes

! Source

! Release date

CCDS862——

|style="text-align:center"| {{cite web | title=Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene | website= NCBI |version = CCDS Release 20 for Homo sapiens | url=https://www.ncbi.nlm.nih.gov/gene?term=1%5BChr%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%22has%20ccds%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch |date=2016-09-08 | access-date=2017-05-28}}

| 2016-09-08

HGNC870245703

|style="text-align:center"| {{cite web | title=Statistics & Downloads for chromosome 7 | website=HUGO Gene Nomenclature Committee | url=https://www.genenames.org/cgi-bin/statistics?c=7 | date=2017-05-12 | access-date=2017-05-19 | archive-date=2017-06-29 | archive-url=https://web.archive.org/web/20170629080113/http://www.genenames.org/cgi-bin/statistics?c=7 | url-status=dead }}

| 2017-05-12

Ensembl984973889

|style="text-align:center"| {{cite web | title=Chromosome 7: Chromosome summary - Homo sapiens | website= Ensembl Release 88 | url=http://mar2017.archive.ensembl.org/Homo_sapiens/Location/Chromosome?r=7 |date=2017-03-29 | access-date=2017-05-19}}

| 2017-03-29

UniProt944——

|style="text-align:center"| {{cite web | title=Human chromosome 7: entries, gene names and cross-references to MIM | website= UniProt | url=https://www.uniprot.org/docs/humchr07.txt |date=2018-02-28 | access-date=2018-03-16}}

| 2018-02-28

NCBI948905933

|style="text-align:center"| {{cite web | title=Search results - 7[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene | website=NCBI | date=2017-05-19 | url=https://www.ncbi.nlm.nih.gov/gene?term=7%5BCHR%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%22genetype%20protein%20coding%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch | access-date=2017-05-20}}{{cite web | title=Search results - 7[CHR] AND "Homo sapiens"[Organism] AND ( ("genetype miscrna"[Properties] OR "genetype ncrna"[Properties] OR "genetype rrna"[Properties] OR "genetype trna"[Properties] OR "genetype scrna"[Properties] OR "genetype snrna"[Properties] OR "genetype snorna"[Properties]) NOT "genetype protein coding"[Properties] AND alive[prop]) - Gene | website=NCBI | date=2017-05-19 | url=https://www.ncbi.nlm.nih.gov/gene?term=7%5BCHR%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%28%22genetype%20miscrna%22%5BProperties%5D%20OR%20%22genetype%20ncrna%22%5BProperties%5D%20OR%20%22genetype%20rrna%22%5BProperties%5D%20OR%20%22genetype%20trna%22%5BProperties%5D%20OR%20%22genetype%20scrna%22%5BProperties%5D%20OR%20%22genetype%20snrna%22%5BProperties%5D%20OR%20%22genetype%20snorna%22%5BProperties%5D%29%20NOT%20%22genetype%20protein%20coding%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch | access-date=2017-05-20}}{{cite web | title=Search results - 7[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene | website=NCBI | date=2017-05-19 | url=https://www.ncbi.nlm.nih.gov/gene?term=7%5BCHR%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%22genetype%20pseudo%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch | access-date=2017-05-20}}

| 2017-05-19

= Gene list =

{{Category see also|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.

{{columns-list|

  • 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

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

{{div col|colwidth=22em}}

  • 7p22.1 microduplication syndrome{{Cite journal |last1=Caselli |first1=Rossella |last2=Ballarati |first2=Lucia |last3=Vignoli |first3=Aglaia |last4=Peron |first4=Angela |last5=Recalcati |first5=Maria Paola |last6=Catusi |first6=Ilaria |last7=Larizza |first7=Lidia |last8=Giardino |first8=Daniela |date=November 2015 |title=7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature |url=https://pubmed.ncbi.nlm.nih.gov/26297194/ |journal=European Journal of Medical Genetics |volume=58 |issue=11 |pages=578–583 |doi=10.1016/j.ejmg.2015.08.003 |issn=1878-0849 |pmid=26297194}}
  • argininosuccinic aciduria{{cite journal | vauthors = 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, Döhner H, Döhner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC | title = Human chromosome 7: DNA sequence and biology | journal = Science | volume = 300 | issue = 5620 | pages = 767–772 | date = May 2003 | pmid = 12690205 | pmc = 2882961 | doi = 10.1126/science.1083423 | bibcode = 2003Sci...300..767S }}{{cite journal | vauthors = Nagamani SC, Erez A, Lee B | title = Argininosuccinate lyase deficiency | journal = Genetics in Medicine | volume = 14 | issue = 5 | pages = 501–507 | date = May 2012 | pmid = 22241104 | pmc = 3709024 | doi = 10.1038/gim.2011.1 }}{{cite journal | vauthors = Gilbert F | title = Chromosome 7 | journal = Genetic Testing | volume = 6 | issue = 2 | pages = 141–161 | year = 2002 | pmid = 12215256 | doi = 10.1089/10906570260199429 }}
  • cerebral cavernous malformation
  • Charcot–Marie–Tooth disease
  • Cholestasis, progressive familial intrahepatic 3
  • Citrullinemia, type II, adult-onset,
  • congenital bilateral absence of vas deferens
  • cystic fibrosis{{cite journal | vauthors = 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 | title = The DNA sequence of human chromosome 7 | journal = Nature | volume = 424 | issue = 6945 | pages = 157–164 | date = Jul 2003 | pmid = 12853948 | doi = 10.1038/nature01782 | bibcode = 2003Natur.424..157H | author-link1 = Ladeana Hillier | doi-access = free }}{{cite journal | vauthors = Lichtenbelt KD, Hochstenbach R, van Dam WM, Eleveld MJ, Poot M, Beemer FA | title = Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotype | journal = American Journal of Medical Genetics Part A | volume = 132A | issue = 1 | pages = 93–100 | date = Jan 2005 | pmid = 15580634 | doi = 10.1002/ajmg.a.30408 | s2cid = 20178860 | url = http://selab.janelia.org/publications/Hillier03/Hillier03-reprint.pdf | access-date = 2017-01-20 | archive-url = https://web.archive.org/web/20131217060041/http://selab.janelia.org/publications/Hillier03/Hillier03-reprint.pdf | archive-date = 2013-12-17 | url-status = dead }}
  • Developmental verbal dyspraxia{{cite journal | vauthors = Newbury DF, Monaco AP | title = Genetic advances in the study of speech and language disorders | journal = Neuron | volume = 68 | issue = 2 | pages = 309–320 | date = Oct 2010 | pmid = 20955937 | pmc = 2977079 | doi = 10.1016/j.neuron.2010.10.001 }}
  • distal spinal muscular atrophy, type V{{citation needed|date=August 2013}}
  • Ehlers–Danlos syndrome
  • hemochromatosis, type 3
  • Hereditary nonpolyposis colorectal cancer HNPCC4
  • Lissencephaly syndrome, norman-roberts type
  • Marfan syndrome
  • maple syrup urine disease{{citation needed|date=August 2013}}
  • maturity onset diabetes of the young type 3{{citation needed|date=August 2013}}
  • mucopolysaccharidosis type VII or Sly syndrome
  • Muscular dystrophy, limb-girdle, type 1D
  • myelodysplastic syndrome{{cite journal | vauthors = Solé F, Espinet B, Sanz GF, Cervera J, Calasanz MJ, Luño E, Prieto F, Granada I, Hernández JM, Cigudosa JC, Diez JL, Bureo E, Marqués ML, Arranz E, Ríos R, Martínez Climent JA, Vallespí T, Florensa L, Woessner S | title = Incidence, characterization and prognostic significance of chromosomal abnormalities in 640 patients with primary myelodysplastic syndromes. Grupo Cooperativo Español de Citogenética Hematológica | journal = British Journal of Haematology | volume = 108 | issue = 2 | pages = 346–356 | date = Feb 2000 | pmid = 10691865 | doi = 10.1046/j.1365-2141.2000.01868.x | s2cid = 10149222 }}
  • Myotonia congenita{{cite book | vauthors = Lossin C, George AL | title = Chapter 2 Myotonia Congenita | volume = 63 | pages = 25–55 | year = 2008 | pmid = 19185184 | doi = 10.1016/S0065-2660(08)01002-X | isbn = 9780123745279 | series = Advances in Genetics }}
  • nonsyndromic deafness
  • osteogenesis imperfecta{{citation needed|date=August 2013}}
  • p47-phox-deficient chronic granulomatous disease{{citation needed|date=August 2013}}
  • Pectus excavatum
  • Pendred syndrome{{cite journal | vauthors = Grimaldi R, Capuano P, Miranda N, Wagner C, Capasso G | title = [Pendrin: physiology, molecular biology and clinical importance] | language = it | journal = Giornale Italiano di Nefrologia | volume = 24 | issue = 4 | pages = 288–294 | year = 2007 | pmid = 17659500 }}
  • Romano–Ward syndrome{{citation needed|date=August 2013}}
  • Shwachman–Diamond syndrome
  • Schizophrenia{{citation needed|date=August 2013}}
  • Silver-Russell syndrome{{cite journal | vauthors = Eggermann T, Begemann M, Binder G, Spengler S | title = Silver-Russell syndrome: genetic basis and molecular genetic testing | journal = Orphanet Journal of Rare Diseases | volume = 5 | page = 19 | year = 2010 | pmid = 20573229 | pmc = 2907323 | doi = 10.1186/1750-1172-5-19 | doi-access = free }}
  • Specific language impairment
  • Tritanopia or tritanomaly color blindness
  • Williams syndrome{{cite journal | vauthors = Zarchi O, Attias J, Gothelf D | title = Auditory and visual processing in Williams syndrome | journal = The Israel Journal of Psychiatry and Related Sciences | volume = 47 | issue = 2 | pages = 125–131 | year = 2010 | pmid = 20733255 }}
  • Zellweger syndrome{{cite book | last1 = Steinberg | first1 = Steven J | last2 = Raymond | first2 = Gerald V | last3 = Braverman | first3 = Nancy E | last4 = Moser | first4 = Ann B | year = 2017 | title = GeneReviews® | url = https://www.ncbi.nlm.nih.gov/books/NBK1116 | chapter = Zellweger Spectrum Disorder | chapter-url = https://www.ncbi.nlm.nih.gov/books/NBK1448/ | publisher = University of Washington, Seattle | access-date = 2019-09-17 | pmid = 20301621}}

{{div col end}}

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 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.{{cite journal | vauthors = Velagaleti GV, Jalal SM, Kukolich MK, Lockhart LH, Tonk VS | title = De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature | journal = Clinical Genetics | volume = 61 | issue = 3 | pages = 202–206 | date = Mar 2002 | pmid = 12000362 | doi = 10.1034/j.1399-0004.2002.610306.x | s2cid = 33574584 }}

Cytogenetic band

{{multiple image

| header = G-banding ideograms of human chromosome 7

| total_width = 370

| image1 = Human chromosome 7 ideogram vertical.svg

| width1 = 216

| height1 = 1125

| caption1 = 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).

| image2 = Human chromosome 07 - 400 550 850 bphs.png

| width2 = 1003

| height2 = 2801

| caption2 = G-banding patterns of human chromosome 7 in three different resolutions (400,Genome Decoration Page, NCBI. [http://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_400_V1 Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3)]. Last update 2014-03-04. Retrieved 2017-04-26. 550Genome Decoration Page, NCBI. [http://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_550_V1 Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3)]. Last update 2015-08-11. Retrieved 2017-04-26. and 850Genome Decoration Page, NCBI. [http://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_850_V1 Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3)]. Last update 2014-06-03. Retrieved 2017-04-26.). Band length in this diagram is based on the ideograms from ISCN (2013).{{cite book|author=International Standing Committee on Human Cytogenetic Nomenclature|title=ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013)|url=https://books.google.com/books?id=lGCLrh0DIwEC|year=2013|publisher=Karger Medical and Scientific Publishers|isbn=978-3-318-02253-7}} This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process.{{cite book|last1=Sethakulvichai|first1=W.|last2=Manitpornsut|first2=S.|last3=Wiboonrat|first3=M.|last4=Lilakiatsakun|first4=W.|last5=Assawamakin|first5=A.|last6=Tongsima|first6=S.|title=2012 Ninth International Conference on Computer Science and Software Engineering (JCSSE) |chapter=Estimation of band level resolutions of human chromosome images |year=2012|pages=276–282|doi=10.1109/JCSSE.2012.6261965|isbn=978-1-4673-1921-8|s2cid=16666470|chapter-url=https://www.researchgate.net/publication/261304470}}

| direction = horizontal

| align = right

}}

class="wikitable" style="text-align:right"

|+ G-bands of human chromosome 7 in resolution 850 bphs

! Chr.

! Arm"p": Short arm; "q": Long arm.

! BandFor cytogenetic banding nomenclature, see article locus.

! ISCN
startThese 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.

! ISCN
stop

! Basepair
start

! Basepair
stop

! Staingpos: 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.

! Density

7p

|style="text-align:left"| 22.3

0227{{val|1|fmt=commas}}{{val|2800000|fmt=commas}}

| style="background:white"| gneg

7p

|style="text-align:left"| 22.2

227397{{val|2800001|fmt=commas}}{{val|4500000|fmt=commas}}

|style="background:#d9d9d9"| gpos

25
7p

|style="text-align:left"| 22.1

397610{{val|4500001|fmt=commas}}{{val|7200000|fmt=commas}}

| style="background:white"| gneg

7p

|style="text-align:left"| 21.3

610908{{val|7200001|fmt=commas}}{{val|13700000|fmt=commas}}

|style="background:black; color:white;"| gpos

100
7p

|style="text-align:left"| 21.2

908965{{val|13700001|fmt=commas}}{{val|16500000|fmt=commas}}

| style="background:white"| gneg

7p

|style="text-align:left"| 21.1

9651121{{val|16500001|fmt=commas}}{{val|20900000|fmt=commas}}

|style="background:black; color:white;"| gpos

100
7p

|style="text-align:left"| 15.3

11211419{{val|20900001|fmt=commas}}{{val|25500000|fmt=commas}}

| style="background:white"| gneg

7p

|style="text-align:left"| 15.2

14191589{{val|25500001|fmt=commas}}{{val|27900000|fmt=commas}}

|style="background:#979797"| gpos

50
7p

|style="text-align:left"| 15.1

15891816{{val|27900001|fmt=commas}}{{val|28800000|fmt=commas}}

| style="background:white"| gneg

7p

|style="text-align:left"| 14.3

18161986{{val|28800001|fmt=commas}}{{val|34900000|fmt=commas}}

|style="background:#636363; color:white;"| gpos

75
7p

|style="text-align:left"| 14.2

19862043{{val|34900001|fmt=commas}}{{val|37100000|fmt=commas}}

| style="background:white"| gneg

7p

|style="text-align:left"| 14.1

20432327{{val|37100001|fmt=commas}}{{val|43300000|fmt=commas}}

|style="background:#636363; color:white;"| gpos

75
7p

|style="text-align:left"| 13

23272639{{val|43300001|fmt=commas}}{{val|45400000|fmt=commas}}

| style="background:white"| gneg

7p

|style="text-align:left"| 12.3

26392838{{val|45400001|fmt=commas}}{{val|49000000|fmt=commas}}

|style="background:#636363; color:white;"| gpos

75
7p

|style="text-align:left"| 12.2

28382909{{val|49000001|fmt=commas}}{{val|50500000|fmt=commas}}

| style="background:white"| gneg

7p

|style="text-align:left"| 12.1

29093093{{val|50500001|fmt=commas}}{{val|53900000|fmt=commas}}

|style="background:#636363; color:white;"| gpos

75
7p

|style="text-align:left"| 11.2

30933306{{val|53900001|fmt=commas}}{{val|58100000|fmt=commas}}

| style="background:white"| gneg

7p

|style="text-align:left"| 11.1

33063448{{val|58100001|fmt=commas}}{{val|60100000|fmt=commas}}

|style="background:#6e7f8f; color:white;"| acen

7q

|style="text-align:left"| 11.1

34483689{{val|60100001|fmt=commas}}{{val|62100000|fmt=commas}}

|style="background:#6e7f8f; color:white;"| acen

7q

|style="text-align:left"| 11.21

36893973{{val|62100001|fmt=commas}}{{val|67500000|fmt=commas}}

| style="background:white"| gneg

7q

|style="text-align:left"| 11.22

39734171{{val|67500001|fmt=commas}}{{val|72700000|fmt=commas}}

|style="background:#979797"| gpos

50
7q

|style="text-align:left"| 11.23

41714597{{val|72700001|fmt=commas}}{{val|77900000|fmt=commas}}

| style="background:white"| gneg

7q

|style="text-align:left"| 21.11

45974994{{val|77900001|fmt=commas}}{{val|86700000|fmt=commas}}

|style="background:black; color:white;"| gpos

100
7q

|style="text-align:left"| 21.12

49945108{{val|86700001|fmt=commas}}{{val|88500000|fmt=commas}}

| style="background:white"| gneg

7q

|style="text-align:left"| 21.13

51085292{{val|88500001|fmt=commas}}{{val|91500000|fmt=commas}}

|style="background:#636363; color:white;"| gpos

75
7q

|style="text-align:left"| 21.2

52925406{{val|91500001|fmt=commas}}{{val|93300000|fmt=commas}}

| style="background:white"| gneg

7q

|style="text-align:left"| 21.3

54065661{{val|93300001|fmt=commas}}{{val|98400000|fmt=commas}}

|style="background:#636363; color:white;"| gpos

75
7q

|style="text-align:left"| 22.1

56616129{{val|98400001|fmt=commas}}{{val|104200000|fmt=commas}}

| style="background:white"| gneg

7q

|style="text-align:left"| 22.2

61296300{{val|104200001|fmt=commas}}{{val|104900000|fmt=commas}}

|style="background:#979797"| gpos

50
7q

|style="text-align:left"| 22.3

63006470{{val|104900001|fmt=commas}}{{val|107800000|fmt=commas}}

| style="background:white"| gneg

7q

|style="text-align:left"| 31.1

64706683{{val|107800001|fmt=commas}}{{val|115000000|fmt=commas}}

|style="background:#636363; color:white;"| gpos

75
7q

|style="text-align:left"| 31.2

66836867{{val|115000001|fmt=commas}}{{val|117700000|fmt=commas}}

| style="background:white"| gneg

7q

|style="text-align:left"| 31.31

68677094{{val|117700001|fmt=commas}}{{val|121400000|fmt=commas}}

|style="background:#636363; color:white;"| gpos

75
7q

|style="text-align:left"| 31.32

70947208{{val|121400001|fmt=commas}}{{val|124100000|fmt=commas}}

| style="background:white"| gneg

7q

|style="text-align:left"| 31.33

72087364{{val|124100001|fmt=commas}}{{val|127500000|fmt=commas}}

|style="background:#636363; color:white;"| gpos

75
7q

|style="text-align:left"| 32.1

73647449{{val|127500001|fmt=commas}}{{val|129600000|fmt=commas}}

| style="background:white"| gneg

7q

|style="text-align:left"| 32.2

74497576{{val|129600001|fmt=commas}}{{val|130800000|fmt=commas}}

|style="background:#d9d9d9"| gpos

25
7q

|style="text-align:left"| 32.3

75767803{{val|130800001|fmt=commas}}{{val|132900000|fmt=commas}}

| style="background:white"| gneg

7q

|style="text-align:left"| 33

78038031{{val|132900001|fmt=commas}}{{val|138500000|fmt=commas}}

|style="background:#979797"| gpos

50
7q

|style="text-align:left"| 34

80318371{{val|138500001|fmt=commas}}{{val|143400000|fmt=commas}}

| style="background:white"| gneg

7q

|style="text-align:left"| 35

83718612{{val|143400001|fmt=commas}}{{val|148200000|fmt=commas}}

|style="background:#636363; color:white;"| gpos

75
7q

|style="text-align:left"| 36.1

86128910{{val|148200001|fmt=commas}}{{val|152800000|fmt=commas}}

| style="background:white"| gneg

7q

|style="text-align:left"| 36.2

89109080{{val|152800001|fmt=commas}}{{val|155200000|fmt=commas}}

|style="background:#d9d9d9"| gpos

25
7q

|style="text-align:left"| 36.3

90809350{{val|155200001|fmt=commas}}{{val|159345973|fmt=commas}}

| style="background:white"| gneg

In popular culture

= Novels =

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,{{Cite book|url=https://books.google.com/books?id=R4xrWxfC_DUC&q=performance+anomalies+chromosome&pg=PT87|title=Performance Anomalies: A Novel|last=Lee|first=Victor Robert|date=2013-01-15|publisher=Perimeter Six Press|isbn=9781938409202|language=en}} who receives the moniker Cono [https://books.google.com/books?id=R4xrWxfC_DUC&q=performance+anomalies+chr&pg=PT87 7Q]

References

{{reflist|33em}}

Further reading

{{refbegin}}

  • {{cite journal | vauthors = Rodríguez L, López F, Paisán L, de la Red Mdel M, Ruiz AM, Blanco M, Antelo Cortizas J, Martínez-Frías ML | title = Pure partial trisomy 7q: two new patients and review | journal = American Journal of Medical Genetics | volume = 113 | issue = 2 | pages = 218–224 | date = Nov 2002 | pmid = 12407716 | doi = 10.1002/ajmg.10719 }}

{{refend}}

External links

{{Commons category|Human chromosome 7}}

  • {{cite web | author= National Institutes of Health | title= Chromosome 7 | work= Genetics Home Reference | url= http://ghr.nlm.nih.gov/chromosome=7 | archive-url= https://web.archive.org/web/20040803035736/http://ghr.nlm.nih.gov/chromosome=7 | url-status= dead | archive-date= August 3, 2004 | access-date= 2017-05-06 }}
  • {{Cite web|url=http://web.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/chromo07.shtml|title=Chromosome 7|website=Human Genome Project Information Archive 1990–2003|access-date=2017-05-06}}

{{Chromosomes}}

{{Chromosome genetics}}

{{DEFAULTSORT:Chromosome 07 (Human)}}

Category:Chromosomes (human)

*