CHD7

CHD7
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	2CKC, 2V0E, 2V0F
Identifikatori
Aliasi	CHD7
Vanjski ID-jevi	OMIM: 608892 MGI: 2444748 HomoloGene: 19067 GeneCards: CHD7
Lokacija gena (čovjek)
Hrom.	Hromosom 8 (čovjek)
Kraj	60,868,028 bp
Lokacija gena (miš)
Hrom.	Hromosom 4 (miš)
Kraj	8,867,659 bp
Ontologija gena
Molekularna funkcija	• nucleotide binding; • vezivanje sa DNK; • GO:0008026 helicase activity; • chromatin binding; • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding; • hydrolase activity, acting on acid anhydrides; • GO:0001948, GO:0016582 vezivanje za proteine; • hydrolase activity; • ATP binding; • promoter-specific chromatin binding;
Ćelijska komponenta	• jedro; • nukleoplazma; • Jedarce;
Biološki proces	• skeletal system development; • olfactory behavior; • semicircular canal morphogenesis; • GO:0009373 regulation of transcription, DNA-templated; • kognitivna funkcija; • locomotory behavior; • adult heart development; • cranial nerve development; • heart morphogenesis; • olfactory nerve development; • in utero embryonic development; • sensory perception of sound; • Krvotok; • transcription, DNA-templated; • epithelium development; • genitalia development; • limb development; • ear morphogenesis; • regulation of growth hormone secretion; • central nervous system development; • T cell differentiation; • face development; • blood vessel development; • retina development in camera-type eye; • inner ear morphogenesis; • artery morphogenesis; • positive regulation of multicellular organism growth; • rRNA processing; • camera-type eye development; • olfactory bulb development; • nose development; • female genitalia development; • regulation of neurogenesis; • adult walking behavior; • embryonic hindlimb morphogenesis; • ventricular trabecula myocardium morphogenesis; • tissue remodeling; • aorta morphogenesis; • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II; • right ventricular compact myocardium morphogenesis; • regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; • aorta development; • atrioventricular canal development; • blood vessel remodeling; • chromatin remodeling; • cardiac septum morphogenesis; • innervation; • GO:0031497, GO:0006336, GO:0034724, GO:0001301, GO:0007580, GO:0034652, GO:0010847 chromatin organization; • roof of mouth development; • secondary palate development; • response to bacterium;
	Izvori:Amigo / QuickGO
Ortolozi
	55636
	320790
	ENSG00000171316
	ENSMUSG00000041235
	Q9P2D1
	A2AJK6
	NM_017780; NM_001316690; NM_017783
	NM_001033395; NM_001081417; NM_001277149; NM_001355382
	NP_001303619; NP_060250
	NP_001264078; NP_001342311
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Hromodomenskohelikazni DNK-vezujući protein 7, poznat i kao ATP-ovisna helikaza CHD7 je enzim koji je kod ljudi kodiran genom CHD7.^[5]^[6]

Aminokiselinska sekvenca uredi

Dužina polipeptidnog lanca je čak 2.977 aminokiselina, а molekulska težina 335.927 Da.^[7]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MADPGMMSLF	GEDGNIFSEG	LEGLGECGYP	ENPVNPMGQQ	MPIDQGFASL
QPSLHHPSTN	QNQTKLTHFD	HYNQYEQQKM	HLMDQPNRMM	SNTPGNGLAS
PHSQYHTPPV	PQVPHGGSGG	GQMGVYPGMQ	NERHGQSFVD	SSSMWGPRAV
QVPDQIRAPY	QQQQPQPQPP	QPAPSGPPAQ	GHPQHMQQMG	SYMARGDFSM
QQHGQPQQRM	SQFSQGQEGL	NQGNPFIATS	GPGHLSHVPQ	QSPSMAPSLR
HSVQQFHHHP	STALHGESVA	HSPRFSPNPP	QQGAVRPQTL	NFSSRSQTVP
SPTINNSGQY	SRYPYSNLNQ	GLVNNTGMNQ	NLGLTNNTPM	NQSVPRYPNA
VGFPSNSGQG	LMHQQPIHPS	GSLNQMNTQT	MHPSQPQGTY	ASPPPMSPMK
AMSNPAGTPP	PQVRPGSAGI	PMEVGSYPNM	PHPQPSHQPP	GAMGIGQRNM
GPRNMQQSRP	FIGMSSAPRE	LTGHMRPNGC	PGVGLGDPQA	IQERLIPGQQ
HPGQQPSFQQ	LPTCPPLQPH	PGLHHQSSPP	HPHHQPWAQL	HPSPQNTPQK
VPVHQHSPSE	PFLEKPVPDM	TQVSGPNAQL	VKSDDYLPSI	EQQPQQKKKK
KKNNHIVAED	PSKGFGKDDF	PGGVDNQELN	RNSLDGSQEE	KKKKKRSKAK
KDPKEPKEPK	EKKEPKEPKT	PKAPKIPKEP	KEKKAKTATP	KPKSSKKSSN
KKPDSEASAL	KKKVNKGKTE	GSENSDLDKT	PPPSPPPEED	EDPGVQKRRS
SRQVKRKRYT	EDLEFKISDE	EADDADAAGR	DSPSNTSQSE	QQESVDAEGP
VVEKIMSSRS	VKKQKESGEE	VEIEEFYVKY	KNFSYLHCQW	ASIEDLEKDK
RIQQKIKRFK	AKQGQNKFLS	EIEDELFNPD	YVEVDRIMDF	ARSTDDRGEP
VTHYLVKWCS	LPYEDSTWER	RQDIDQAKIE	EFEKLMSREP	ETERVERPPA
DDWKKSESSR	EYKNNNKLRE	YQLEGVNWLL	FNWYNMRNCI	LADEMGLGKT
IQSITFLYEI	YLKGIHGPFL	VIAPLSTIPN	WEREFRTWTE	LNVVVYHGSQ
ASRRTIQLYE	MYFKDPQGRV	IKGSYKFHAI	ITTFEMILTD	CPELRNIPWR
CVVIDEAHRL	KNRNCKLLEG	LKMMDLEHKV	LLTGTPLQNT	VEELFSLLHF
LEPSRFPSET	TFMQEFGDLK	TEEQVQKLQA	ILKPMMLRRL	KEDVEKNLAP
KEETIIEVEL	TNIQKKYYRA	ILEKNFTFLS	KGGGQANVPN	LLNTMMELRK
CCNHPYLING	AEEKILEEFK	ETHNAESPDF	QLQAMIQAAG	KLVLIDKLLP
KLKAGGHRVL	IFSQMVRCLD	ILEDYLIQRR	YPYERIDGRV	RGNLRQAAID
RFSKPDSDRF	VFLLCTRAGG	LGINLTAADT	CIIFDSDWNP	QNDLQAQARC
HRIGQSKSVK	IYRLITRNSY	EREMFDKASL	KLGLDKAVLQ	SMSGRENATN
GVQQLSKKEI	EDLLRKGAYG	ALMDEEDEGS	KFCEEDIDQI	LLRRTHTITI
ESEGKGSTFA	KASFVASGNR	TDISLDDPNF	WQKWAKKAEL	DIDALNGRNN
LVIDTPRVRK	QTRLYSAVKE	DELMEFSDLE	SDSEEKPCAK	PRRPQDKSQG
YARSECFRVE	KNLLVYGWGR	WTDILSHGRY	KRQLTEQDVE	TICRTILVYC
LNHYKGDENI	KSFIWDLITP	TADGQTRALV	NHSGLSAPVP	RGRKGKKVKA
QSTQPVVQDA	DWLASCNPDA	LFQEDSYKKH	LKHHCNKVLL	RVRMLYYLRQ
EVIGDQADKI	LEGADSSEAD	VWIPEPFHAE	VPADWWDKEA	DKSLLIGVFK
HGYEKYNSMR	ADPALCFLER	VGMPDAKAIA	AEQRGTDMLA	DGGDGGEFDR
EDEDPEYKPT	RTPFKDEIDE	FANSPSEDKE	ESMEIHATGK	HSESNAELGQ
LYWPNTSTLT	TRLRRLITAY	QRSYKRQQMR	QEALMKTDRR	RRRPREEVRA
LEAEREAIIS	EKRQKWTRRE	EADFYRVVST	FGVIFDPVKQ	QFDWNQFRAF
ARLDKKSDES	LEKYFSCFVA	MCRRVCRMPV	KPDDEPPDLS	SIIEPITEER
ASRTLYRIEL	LRKIREQVLH	HPQLGERLKL	CQPSLDLPEW	WECGRHDRDL
LVGAAKHGVS	RTDYHILNDP	ELSFLDAHKN	FAQNRGAGNT	SSLNPLAVGF
VQTPPVISSA	HIQDERVLEQ	AEGKVEEPEN	PAAKEKCEGK	EEEEETDGSG
KESKQECEAE	ASSVKNELKG	VEVGADTGSK	SISEKGSEED	EEEKLEDDDK
SEESSQPEAG	AVSRGKNFDE	ESNASMSTAR	DETRDGFYME	DGDPSVAQLL
HERTFAFSFW	PKDRVMINRL	DNICEAVLKG	KWPVNRRQMF	DFQGLIPGYT
PTTVDSPLQK	RSFAELSMVG	QASISGSEDI	TTSPQLSKED	ALNLSVPRQR
RRRRRKIEIE	AERAAKRRNL	MEMVAQLRES	QVVSENGQEK	VVDLSKASRE
ATSSTSNFSS	LSSKFILPNV	STPVSDAFKT	QMELLQAGLS	RTPTRHLLNG
SLVDGEPPMK	RRRGRRKNVE	GLDLLFMSHK	RTSLSAEDAE	VTKAFEEDIE
TPPTRNIPSP	GQLDPDTRIP	VINLEDGTRL	VGEDAPKNKD	LVEWLKLHPT
YTVDMPSYVP	KNADVLFSSF	QKPKQKRHRC	RNPNKLDINT	LTGEERVPVV
NKRNGKKMGG	AMAPPMKDLP	RWLEENPEFA	VAPDWTDIVK	QSGFVPESMF
DRLLTGPVVR	GEGASRRGRR	PKSEIARAAA	AAAAVASTSG	INPLLVNSLF
AGMDLTSLQN	LQNLQSLQLA	GLMGFPPGLA	TAATAGGDAK	NPAAVLPLML
PGMAGLPNVF	GLGGLLNNPL	SAATGNTTTA	SSQGEPEDST	SKGEEKGNEN
EDENKDSEKS	TDAVSAADSA	NGSVGAATAP	AGLPSNPLAF	NPFLLSTMAP
GLFYPSMFLP	PGLGGLTLPG	FPALAGLQNA	VGSSEEKAAD	KAEGGPFKDG
ETLEGSDAEE	SLDKTAESSL	LEDEIAQGEE	LDSLDGGDEI	ENNENDE

Funkcija uredi

CHD7 je ovisan o ATP-u remodelator hromatina homologan proteinu Drosophila grupa tritoraksni kismet.^[8] Mutacije u CHD7 povezane su sa sindromom CHARGE.^[9] Ovaj protein pripada većoj grupi kompleksa za remodeliranje hromatina ovisnih o ATP-u, potporodica CHD.

Modelni organizmi uredi

Fenotip nokaut-miša *Chd7*
Svojstvo	Fenotip
Vijabilnost homozigota	Nenormalan
Studija letalne recesivnosti	Nenormalan
Plodnost	Normalan
Tjelesna težina	Normalan
Anksioznost otvorenog polja	Normalan
Neurološka procjena	Nenormalan^[10]
Snaga stiska	Normalan
Test vruće ploče	Normalan
Dismorfologija	Normalan
Indirektna kalorimetrija	Normalan
Test tolerancije glukoze	Normalan
Slušni odgovor moždanog stabla	Normalan
DEXA	Normalan
Radiografija	Normalan^[11]
Tjelesna temperatura	Normalan
Morfologija oka	Nenormalan^[12]
Klinička hemija	Normalan
Hematologija	Normalan
Limfociti periferne krvi	Normalan
Mikronukleus test	Normalan
Težina srca	Normalan
Histopatologija mozga	Nenormalan
Salmonella infekcija	Normalan^[13]
Citrobacter infekcija	Normalan^[14]
Svi testovi i analize su prema^[15]^[16]

U studiji finkcije CHD7 upotrebljeni su i modelni organizmi. Uslovna linija nokaut-miševa, zvana Chd7^{tm2a (EUCOMM) Wtsi}^[17]^[18] generirana je kao dio progtama Međunarodnog konzorcija za nokaut-miševe — visokopropusnog projekta mutageneze za generiranje i distribuciju životinjskih modela bolesti zainteresiranim naučnicima.^[19]^[20]^[21]

Histološki presjek Bergmeisterove papile

Mužjaci i ženke podvrgnuti su standardiziranom fenotipskom pregledu, kako bi se utvrdili efekti delecija.^[15]^[22] Na mutantnim miševima izvedena su 24 ispitivanja i uočeno je pet značajnih abnormalnosti.^[15] Nijedan homozigotni mutantni embrion nije identificiran tokom gestacije, pa stoga nijedan nije preživio do odbijanja. Preostali testovi provedeni su na heterozigotnim mutantnim odraslim miševima. Muški heterozigoti pokazali su abnormalnu elevaciju karlica u modificiranom SHIRPA testu i imaju visoku učestalost Bergmeisterove papile na oba oka. Prilikom proučavanja mozga heterozigotnih životinjprimijećeno je odsustvo corpus callosum.^[15]

Klinički značaj uredi

Mutacije u ovom genu povezane su sa sindromom CHARGE.

Reference uredi

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000171316 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000041235 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (Feb 2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 7 (1): 65–73. doi:10.1093/dnares/7.1.65. PMID 10718198.
^ "Entrez Gene: chromodomain helicase DNA binding protein 7".
^ "UniProt, Q9P2D1". Pristupljeno 15. 9. 2021.
^ Bajpai R, Chen DA, Rada-Iglesias A, Zhang J, Xiong Y, Helms J, Chang CP, Zhao Y, Swigut T, Wysocka J (Feb 2010). "CHD7 cooperates with PBAF to control multipotent neural crest formation". Nature. 463 (7283): 958–62. Bibcode:2010Natur.463..958B. doi:10.1038/nature08733. PMC 2890258. PMID 20130577.
^ Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG (Sep 2004). "Mutations in a new member of the chromodomain gene family cause CHARGE syndrome". Nature Genetics. 36 (9): 955–7. doi:10.1038/ng1407. PMID 15300250.
^ "Neurological assessment data for Chd7". Wellcome Trust Sanger Institute.
^ "Radiography data for Chd7". Wellcome Trust Sanger Institute.
^ "Eye morphology data for Chd7". Wellcome Trust Sanger Institute.
^ "Salmonella infection data for Chd7". Wellcome Trust Sanger Institute.
^ "Citrobacter infection data for Chd7". Wellcome Trust Sanger Institute.
^ ^a ^b ^c ^d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
^ "International Knockout Mouse Consortium". Arhivirano s originala, 3. 4. 2012. Pristupljeno 10. 2. 2012.
^ "Mouse Genome Informatics".
^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
^ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
^ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Dopunska literatura uredi

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Van de Laar I, Dooijes D, Hoefsloot L, Simon M, Hoogeboom J, Devriendt K (Nov 2007). "Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype". American Journal of Medical Genetics Part A. 143A (22): 2712–5. doi:10.1002/ajmg.a.32008. PMID 17937444. S2CID 21353716.
Holak HM, Kohlhase J, Holak SA, Holak NH (Jun 2008). "New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene". Ophthalmic Genetics. 29 (2): 79–84. doi:10.1080/13816810801918391. PMID 18484313. S2CID 205807551.
Sanlaville D, Verloes A (Apr 2007). "CHARGE syndrome: an update". European Journal of Human Genetics. 15 (4): 389–99. doi:10.1038/sj.ejhg.5201778. PMID 17299439.
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Wincent J, Holmberg E, Strömland K, Soller M, Mirzaei L, Djureinovic T, Robinson K, Anderlid B, Schoumans J (Jul 2008). "CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome". Clinical Genetics. 74 (1): 31–8. doi:10.1111/j.1399-0004.2008.01014.x. PMID 18445044. S2CID 205406725.
Gennery AR, Slatter MA, Rice J, Hoefsloot LH, Barge D, McLean-Tooke A, Montgomery T, Goodship JA, Burt AD, Flood TJ, Abinun M, Cant AJ, Johnson D (Jul 2008). "Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome". Clinical and Experimental Immunology. 153 (1): 75–80. doi:10.1111/j.1365-2249.2008.03681.x. PMC 2432100. PMID 18505430.
Tellier AL, Cormier-Daire V, Abadie V, Amiel J, Sigaudy S, Bonnet D, de Lonlay-Debeney P, Morrisseau-Durand MP, Hubert P, Michel JL, Jan D, Dollfus H, Baumann C, Labrune P, Lacombe D, Philip N, LeMerrer M, Briard ML, Munnich A, Lyonnet S (Apr 1998). "CHARGE syndrome: report of 47 cases and review". American Journal of Medical Genetics. 76 (5): 402–9. doi:10.1002/(SICI)1096-8628(19980413)76:5<402::AID-AJMG7>3.0.CO;2-O. PMID 9556299.
Jongmans MC, van Ravenswaaij-Arts CM, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten HL, van der Donk K, Seminara S, Bergman JE, Brunner HG, Crowley WF, Hoefsloot LH (Jan 2009). "CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome". Clinical Genetics. 75 (1): 65–71. doi:10.1111/j.1399-0004.2008.01107.x. PMC 2854009. PMID 19021638.
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Vuorela PE, Penttinen MT, Hietala MH, Laine JO, Huoponen KA, Kääriäinen HA (Oct 2008). "A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features". Clinical Dysmorphology. 17 (4): 249–53. doi:10.1097/MCD.0b013e328306a704. PMID 18978652. S2CID 35257043.
Bergman JE, de Wijs I, Jongmans MC, Admiraal RJ, Hoefsloot LH, van Ravenswaaij-Arts CM (2008). "Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome". European Journal of Medical Genetics. 51 (5): 417–25. doi:10.1016/j.ejmg.2008.03.003. PMID 18472328.
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Vanjski linkovi uredi

CHD7 protein, human na US National Library of Medicine Medical Subject Headings (MeSH)
Lokacija ljudskog genoma CHD7 i stranica sa detaljima o genu CHD7 u UCSC Genome Browseru.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000171316 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000041235 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10718198-5] Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (Feb 2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 7 (1): 65–73. doi:10.1093/dnares/7.1.65. PMID 10718198.

[entrez-6] "Entrez Gene: chromodomain helicase DNA binding protein 7".

[UniProt-7] "UniProt, Q9P2D1". Pristupljeno 15. 9. 2021.

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