Hromosom 7

ljudski hromosom
(Preusmjereno sa Hromosom 7 (čovjek))

Hromosom 7 je jedan od 23 para hromosoma kod ljudi, koji normalno imaju njegove dvije kopije. Hromosom 7 ima oko 159 miliona[5] baznih parova (gradivnog materijala DNK) i obuhvata 5 do 5,5 % ukupne količine DNK u ćelijama.

Hromosom 7
Human male karyotpe high resolution - Chromosome 7 cropped.png
Karakteristike
Dužina (bp)159,345,973 bp
(GRCh38)[1]
Br. gena862 (Consensus CDS Project)[2]
VrstaAutosom
Pozicija centromereSubmetacentrik[3]
(60.1 Mbp[4])
Kompletan spisak gena
CCDSSpisak gena
HGNCSpisak gena
UniProtSpisak gena
NCBISpisak gena
Vanjski preglednici karata
EnsemblHromosom 7
EntrezHromosom 7
NCBIHromosom 7
UCSCHromosom 7
Potpune DNK sekvence
RefSeqNC_000007 (FASTA)
GenBankCM000669 (FASTA)
Par hromosoma 7 u kariogramu muškarca
Human chromosome 07 from Gene Gateway - with label.png
LEGENDA-edit.png

GeniUredi

Broj genaUredi

Slijede neke od procjena broja gena za ljudski hromosom 7. Budući da istraživači koriste različite pristupe označavanja genoma, njihova predviđanja broja gena na svakom hromosomu variraju (za tehničke detalje pogledajte predviđanje gena). Među raznim projektima, zajednički Projekat konsenzusnog kodiranja (CCDS) zauzima izuzetno konzervativnu strategiju. Dakle, predviđanje broja gena CCDS-a predstavlja donju granicu ukupnog broja gena koji kodiraju ljudske proteine.[6]

Baza podataka Protein-kodirajući geni Nekodirajući geni RNK Pseudogeni Izvor Datum objave
CCDS
862 [2] 2016-09-08
HGNC
870 245 703 [7] 2017-05-12
Ensembl
984 973 889 [8] 2017-03-29
UniProt
944 [9] 2018-02-28
NCBI
948 905 933 [10][11][12] 2017-05-19

Lista genaUredi

Slijedi djelimična lista gena na ljudskom hromosomu 7. Potpunu listu potražite u linku u informacijskom okviru s desne strane.

Bolesti i poremećajiUredi

Sljedeće bolesti su neke od onih koje su u vezi sa genima na hromosomu 7:

Hromosomski poremećajiUredi

Sljedeća stanja uzrokovana su promjenama u strukturi ili broju kopija hromosoma 7:

  • Williamsov sindrom je uzrokovan delecijom genetičkog materijala iz dijela dugog (q) kraka hromosoma 7. Deletirana regija koja se nalazi na položaju 11.23 (zapisano kao 7q11.23) označena je kao kritična regija Williamsovog sindroma. Ova regija uključuje više od 20 gena, a i vjeruje se da su karakteristične osobine Williamsovog sindroma vjerovatno povezane s gubitkom više gena u ovoj regiji.

Iako je identificirano nekoliko specifičnih gena povezanih s Williamsovim sindromom, veza između većine onih u izbrisanom području i simptoma Williamsovog sindroma je nepoznata.

  • Ostale promjene u broju ili strukturi hromosoma 7 mogu uzrokovati usporeni rast i razvoj, mentalni poremećaj, karakteristične crte lica, abnormalnosti skeleta, odgođen govor i druge medicinske probleme. Te promjene uključuju dodatnu kopiju dijela hromosoma 7 u svakoj ćeliji (djelimična trisomija 7) ili nedostatak segmenta hromosoma u svakoj ćeliji (djelomična monosomija 7). U nekim slučajevima nekoliko se gradivnih blokova DNK (nukleotida) deletira ili duplira u dijelu hromosoma 7. Moguća je i kružna struktura nazvana prstenasti hromosom 7. Prstenasti hromosom nastaje kad se oba kraja sprekinutog og hromosoma međusobno spoje.[24]

Citogenetičke prugeUredi

Idiogrami G-pruganoh ljudskog hromosoma 7
G-prugani hromosom ideogram of human 7 u rezoluciji 850 bphs. Dužina pruga/bendova na ovom dijagramu proporcionalna je dužini osnovnog para. Ovaj tip idiograma obično se koristi u pretraživačima genoma (npr. Ensembl, UCSC pretraživač genoma.
Obrazac G-pruga ljudskog hromosoma 7 u tri različite rezolucije (400,[25] 550[26] and 850[4]). Band length in this diagram is based on the ideograms from ISCN (2013).[27] Ovaj tip idoograma predstavlja stvarnu relativnu dužinu pruga uočenih pod mikroskopom u različitim fazama tokom procesa mitoze.[28]
G-pruges ljudskog hromosoma 7 u rezoluciji 850 bphs[4]
Chr. Krak
p – kratki
q – dugi
Pruga[29] ISCN
start[30]
ISCN
stop
Bazni par
start
Bazni par<
stop
Boja Gustoća
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
Oznake: gpos – Regija koja je pozitivno obojena G pruganjem, uglavnom je AT-bogata i siromašna genima; gneg – Regija koja je negativno obojena, općenito je CG-bogata i bogata genima; acen Centromere; var – Varijabilna regija; stalk: drška.

ReferenceUredi

  1. ^ "Human Genome Assembly GRCh38 - Genome Reference Consortium". National Center for Biotechnology Information (jezik: engleski). 24. 12. 2013. Pristupljeno 4. 3. 2017.
  2. ^ a b "Search results - 1[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene". NCBI. CCDS Release 20 for Homo sapiens. 8. 9. 2016. Pristupljeno 28. 5. 2017.
  3. ^ Tom Strachan; Andrew Read (2. 4. 2010). Human Molecular Genetics. Garland Science. str. 45. ISBN 978-1-136-84407-2.
  4. ^ 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.
  5. ^ What is chromosome 7, "Genetics Home Reference" of U.S. National Library of Medicine. April 2008. [2014-05-14].
  6. ^ 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.
  7. ^ "Statistics & Downloads for chromosome 7". HUGO Gene Nomenclature Committee. 12. 5. 2017. Pristupljeno 19. 5. 2017.
  8. ^ "Chromosome 7: Chromosome summary - Homo sapiens". Ensembl Release 88. 29. 3. 2017. Pristupljeno 19. 5. 2017.
  9. ^ "Human chromosome 7: entries, gene names and cross-references to MIM". UniProt. 28. 2. 2018. Pristupljeno 16. 3. 2018.
  10. ^ "Search results - 7[CHR] AND "Homo sapiens"[Organism] AND ("genetype [[protein]] coding"[Properties] AND alive[prop]) - Gene". NCBI. 19. 5. 2017. Pristupljeno 20. 5. 2017. Sukob URL-a i wikilinka (pomoć)
  11. ^ "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". NCBI. 19. 5. 2017. Pristupljeno 20. 5. 2017.
  12. ^ "Search results - 7[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene". NCBI. 19. 5. 2017. Pristupljeno 20. 5. 2017.
  13. ^ a b c d e f g h i j k l m n 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 (maj 2003). "Human chromosome 7: DNA sequence and biology". Science. 300 (5620): 767–772. Bibcode:2003Sci...300..767S. doi:10.1126/science.1083423. PMC 2882961. PMID 12690205.
  14. ^ Nagamani SC, Erez A, Lee B (maj 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. Arhivirano s originala (PDF), 17. 12. 2013. Pristupljeno 20. 1. 2017.
  17. ^ a b Newbury DF, Monaco AP (Oct 2010). "Genetic advances in the study of speech and language disorders". Neuron. 68 (2): 309–320. doi:10.1016/j.neuron.2010.10.001. PMC 2977079. PMID 20955937.
  18. ^ 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 (Feb 2000). "Incidence, characterization and prognostic significance of chromosomal abnormalities in 640 patients with primary myelodysplastic syndromes. Grupo Cooperativo Español de Citogenética Hematológica". British Journal of Haematology. 108 (2): 346–356. doi:10.1046/j.1365-2141.2000.01868.x. PMID 10691865.
  19. ^ Lossin C, George AL (2008). Myotonia congenita. Advances in Genetics. 63. str. 25–55. doi:10.1016/S0065-2660(08)01002-X. ISBN 9780123745279. PMID 19185184.
  20. ^ Grimaldi R, Capuano P, Miranda N, Wagner C, Capasso G (2007). "[Pendrin: physiology, molecular biology and clinical importance]". Giornale Italiano di Nefrologia (jezik: italijanski). 24 (4): 288–294. PMID 17659500.
  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. Pristupljeno 17. 9. 2019.
  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.
  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". In Computer Science and Software Engineering (JCSSE), 2012 International Joint Conference on: 276–282. doi:10.1109/JCSSE.2012.6261965. ISBN 978-1-4673-1921-8.
  29. ^ For cytogenetic banding nomenclature, see article lokus.
  30. ^ 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.

Dopunska literaturaUredi

  • 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.

Vanjski linkoviUredi

  • National Institutes of Health. "Chromosome 7". Genetics Home Reference. Pristupljeno 6. 5. 2017.[mrtav link]
  • "Chromosome 7". Human Genome Project Information Archive 1990–2003. Pristupljeno 6. 5. 2017.