S Wikipedije, slobodne enciklopedije
Miozin-XV je protein koji je kod ljudi kodiran genom MYO15A .[5] [6]
Identificirani su i pročitani transkript koji sadrži uzvodni i ovaj gen, ali se smatra da oni ne kodiraju fuzijski protein . Opisano je nekoliko alternativno prerađenih varijanti transkripta, ali njihove sekvence pune dužine nisu određene.[6]
Wang el al. (1998) izolirali su djelimičnu cDNK MYO15A iz biblioteke ljudske cDNK specifičnoe za ljudski hromosom. Izvedeni parcijalni protein od 1.585 aminokiselina dijeli 99% aminokiselinskog identiteta s dijelom proteina miša. MYO15A sadrži N-terminalni motorni domen, dva IQ motiva koja vezuju lahki lanac i repnu regiju koja sadrži MyTH4 i domin sličan talinu. Opseg divergencije sekvence motornog domena MYO15A od ostalih prijavljenih miozina kvalifikovao je MYO15A kao novu granu miozinske superporodice. Northern blot analiza otkrila je ekspresiju MYO15A u ljudskom muzgu fetusa i odraslih, a RT-PCR analiza otkrila je ekspresiju u ljudskoj fetusnoj pužnici . RNK dot-blot analiza pokazala je ekspresiju u jajnicima , sjemenicima , bubrezima i hipofizi .
10 20 30 40 50 MAKEEDEEKK AKKGKKGKKA PEPEKPKRSL KGTSRLFMGF RDRTPKISKK GQFRSASAFF WGLHTGPQKT KRKRKARTVL KSTSKLMTQM RMGKKKRAMK GKKPSFMVIR FPGRRGYGRL RPRARSLSKA STAINWLTKK FLLKKAEESG SEQATVDAWL QRSSSRMGSR KLPFPSGAEI LRPGGRLRRF PRSRSIYASG EPLGFLPFED EAPFHHSGSR KSLYGLEGFQ DLGEYYDYHR DGDDYYDRQS LHRYEEQEPY LAGLGPYSPA WPPYGDHYYG YPPEDPYDYY HPDYYGGPFD PGYTYGYGYD DYEPPYAPPS GYSSPYSYHD GYEGEAHPYG YYLDPYAPYD APYPPYDLPY HTPYDVPYFD PYGVHYTVPY AEGVYGGGDE AIYPPEVPYF YPEESASAFV YPWVPPPIPS PHNPYAHAMD DIAELEEPED AGVERQGTSF RLPSAAFFEQ QGMDKPARSK LSLIRKFRLF PRPQVKLFGK EKLEVPLPPS LDIPLPLGDA DEEEDEEELP PVSAVPYGHP FWGFLTPRQR NLQRALSAFG AHRGLGFGPE FGRPVPRPAT SLARFLKKTL SEKKPIARLR GSQKARAGGP AVREAAYKRF GYKLAGMDPE KPGTPIVLRR AQPRARSSND ARRPPAPQPA PRTLSHWSAL LSPPVPPRPP SSGPPPAPPL SPALSGLPRP ASPYGSLRRH PPPWAAPAHV PPAPQASWWA FVEPPAVSPE VPPDLLAFPG PRPSFRGSRR RGAAFGFPGA SPRASRRRAW SPLASPQPSL RSSPGLGYCS PLAPPSPQLS LRTGPFQPPF LPPARRPRSL QESPAPRRAA GRLGPPGSPL PGSPRPPSPP LGLCHSPRRS SLNLPSRLPH TWRRLSEPPT RAVKPQVRLP FHRPPRAGAW RAPLEHRESP REPEDSETPW TVPPLAPSWD VDMPPTQRPP SPWPGGAGSR RGFSRPPPVP ENPFLQLLGP VPSPTLQPED PAADMTRVFL GRHHEPGPGQ LTKSAGPTPE KPEEEATLGD PQLPAETKPP TPAPPKDVTP PKDITPPKDV LPEQKTLRPS LSYPLAACDQ TRATWPPWHR WGTLPQAAAP LAPIRAPEPL PKGGERRQAA PGRFAVVMPR VQKLSSFQRV GPATLKPQVQ PIQDPKPRAC SLRWSCLWLR ADAYGPWPRV HTHPQSCHLG PGAACLSLRG SWEEVGPPSW RNKMHSIRNL PSMRFREQHG EDGVEDMTQL EDLQETTVLS NLKIRFERNL IYTYIGSILV SVNPYQMFGI YGPEQVQQYN GRALGENPPH LFAVANLAFA KMLDAKQNQC IIISGESGSG KTEATKLILR YLAAMNQKRE VMQQIKILEA TPLLESFGNA KTVRNDNSSR FGKFVEIFLE GGVISGAITS QYLLEKSRIV FQAKNERNYH IFYELLAGLP AQLRQAFSLQ EAETYYYLNQ GGNCEIAGKS DADDFRRLLA AMEVLGFSSE DQDSIFRILA SILHLGNVYF EKYETDAQEV ASVVSAREIQ AVAELLQISP EGLQKAITFK VTETMREKIF TPLTVESAVD ARDAIAKVLY ALLFSWLITR VNALVSPRQD TLSIAILDIY GFEDLSFNSF EQLCINYANE NLQYLFNKIV FQEEQEEYIR EQIDWQEITF ADNQPCINLI SLKPYGILRI LDDQCCFPQA TDHTFLQKCH YHHGANPLYS KPKMPLPEFT IKHYAGKVTY QVHKFLDKNH DQVRQDVLDL FVRSRTRVVA HLFSSHAPQA APQRLGKSSS VTRLYKAHTV AAKFQQSLLD LVEKMERCNP LFMRCLKPNH KKEPGLFEPD VVMAQLRYSG VLETVRIRKE GFPVRLPFQG FIDRYCCLVA LKHDLPANGD MCVSVLSRLC KVMPNMYRVG VSKLFLKEHL YQLLESMREH VLNLAALTLQ RCLRGFFIKR RFRSLRHKII LLQSRARGYL ARQRYQQMRR SLVKFRSLVH AYVSRRRYLK LRAEWRCQVE GALLWEQEEL SKREVVAVGH LEVPAELAGL LQAVAGLGLA QVPQVAPVRT PRLQAEPRVT LPLDINNYPM AKFVQCHFKE PAFGMLTVPL RTPLTQLPAE HHAEAVSIFK LILRFMGDPH LHGARENIFG NYIVQKGLAV PELRDEILAQ LANQVWHNHN AHNAERGWLL LAACLSGFAP SPCFNKYLLK FVSDYGRNGF QAVCQHRLMQ AMGRAQQQGS GAARTLPPTQ LEWTATYEKA SMALDVGCFN GDQFSCPVHS WSTGEEVAGD ILRHRGLADG WRGWTVAMKN GVQWAELAGH DYVLDLVSDL ELLRDFPRQK SYFIVGTEGP AASRGGPKVV FGNSWDSDED MSTRPQPQEH MPKVLDSDGY SSHNQDGTNG ETEAQRGTAT HQESDSLGEP AVPHKGLDCY LDSLFDPVLS YGDADLEKPT AIAYRMKGGG QPGGGSSSGT EDTPRRPPEP KPIPGLDAST LALQQAFIHK QAVLLAREMT LQATALQQQP LSAALRSLPA EKPPAPEAQP TSVGTGPPAK PVLLRATPKP LAPAPLAKAP RLPIKPVAAP VLAQDQASPE TTSPSPELVR YSTLNSEHFP QPTQQIKNIV RQYQQPFRGG RPEALRKDGG KVFMKRPDPH EEALMILKGQ MTHLAAAPGT QVSREAVALV KPVTSAPRPS MAPTSALPSR SLEPPEELTQ TRLHRLINPN FYGYQDAPWK IFLRKEVFYP KDSYSHPVQL DLLFRQILHD TLSEACLRIS EDERLRMKAL FAQNQLDTQK PLVTESVKRA VVSTARDTWE VYFSRIFPAT GSVGTGVQLL AVSHVGIKLL RMVKGGQEAG GQLRVLRAYS FADILFVTMP SQNMLEFNLA SEKVILFSAR AHQVKTLVDD FILELKKDSD YVVAVRNFLP EDPALLAFHK GDIIHLQPLE PPRVGYSAGC VVRRKVVYLE ELRRRGPDFG WRFGTIHGRV GRFPSELVQP AAAPDFLQLP TEPGRGRAAA VAAAVASAAA AQEVGRRREG PPVRARSADH GEDALALPPY TMLEFAQKYF RDPQRRPQDG LRLKSKEPRE SRTLEDMLCF TKTPLQESLI ELSDSSLSKM ATDMFLAVMR FMGDAPLKGQ SDLDVLCNLL KLCGDHEVMR DECYCQVVKQ ITDNTSSKQD SCQRGWRLLY IVTAYHSCSE VLHPHLTRFL QDVSRTPGLP FQGIAKACEQ NLQKTLRFGG RLELPSSIEL RAMLAGRSSK RQLFLLPGGL ERHLKIKTCT VALDVVEEIC AEMALTRPEA FNEYVIFVVT NRGQHVCPLS RRAYILDVAS EMEQVDGGYM LWFRRVLWDQ PLKFENELYV TMHYNQVLPD YLKGLFSSVP ASRPSEQLLQ QVSKLASLQH RAKDHFYLPS VREVQEYIPA QLYRTTAGST WLNLVSQHRQ QTQALSPHQA RAQFLGLLSA LPMFGSSFFF IQSCSNIAVP APCILAINHN GLNFLSTETH ELMVKFPLKE IQSTRTQRPT ANSSYPYVEI ALGDVAAQRT LQLQLEQGLE LCRVVAVHVE NLLSAHEKRL TLPPSEITLL
Simboli Ovaj gen kodira nekonvencijski miozin . Ovaj protein razlikuje se od ostalih miozina po tome što ima dugi N-terminalni produžetak koji prethodi konzerviranom motornom domenu. Studije na miševima sugeriraju da je ovaj protein neophodan za organizaciju aktina u trepljastim ćelijama pužnice .[6]
Mutacije u ovom genu povezane su s dubokom, urođenom, neurosenzornom, nesindromnom gluhoćom .[7] Smith–Magenisov sindrom , na hromosomu 17.[6]
^ a b c GRCh38: Ensembl release 89: ENSG00000091536 - Ensembl , maj 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042678 - 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 .^ Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, Morton CC, Morell RJ, Noben-Trauth K, Camper SA, Friedman TB (Jun 1998). "Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3" . Science . 280 (5368): 1447–51. doi :10.1126/science.280.5368.1447 . PMID 9603736 . ^ a b c d "Entrez Gene: MYO15A myosin XVA" .^ Riahi, Z; Bonnet, C; Zainine, R; Louha, M; Bouyacoub, Y; Laroussi, N; Chargui, M; Kefi, R; Jonard, L; Dorboz, I; Hardelin, J. P.; Salah, S. B.; Levilliers, J; Weil, D; McElreavey, K; Boespflug, O. T.; Besbes, G; Abdelhak, S; Petit, C (2014). "Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness" . PLOS ONE . 9 (6): e99797. doi :10.1371/journal.pone.0099797 . PMC 4057390 PMID 24926664 .
Kalay E, Uzumcu A, Krieger E, et al. (2007). "MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation". Am. J. Med. Genet. A . 143 (20): 2382–9. doi :10.1002/ajmg.a.31937 . PMID 17853461 . S2CID 26797020 . Nal N, Ahmed ZM, Erkal E, et al. (2007). "Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing" . Hum. Mutat . 28 (10): 1014–9. doi :10.1002/humu.20556 . PMID 17546645 . S2CID 27597330 . La Rosa S, Capella C, Lloyd RV (2002). "Localization of myosin XVA in endocrine tumors of gut and pancreas". Endocr. Pathol . 13 (1): 29–37. doi :10.1385/EP:13:1:29 . PMID 12114748 . S2CID 20356974 . Bi W, Yan J, Stankiewicz P, et al. (2002). "Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse" . Genome Res . 12 (5): 713–28. doi :10.1101/gr.73702 . PMC 186594 PMID 11997338 . Liburd N, Ghosh M, Riazuddin S, et al. (2001). "Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome" . Hum. Genet . 109 (5): 535–41. doi :10.1007/s004390100604 . PMID 11735029 . S2CID 20812371 . Lloyd RV, Vidal S, Jin L, et al. (2001). "Myosin XVA Expression in the Pituitary and in Other Neuroendocrine Tissues and Tumors" . Am. J. Pathol . 159 (4): 1375–82. doi :10.1016/S0002-9440(10)62524-2 . PMC 1850513 PMID 11583965 . Anderson DW, Probst FJ, Belyantseva IA, et al. (2000). "The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells" . Hum. Mol. Genet . 9 (12): 1729–38. doi :10.1093/hmg/9.12.1729 PMID 10915760 . Liang Y, Wang A, Belyantseva IA, et al. (2000). "Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2" . Genomics . 61 (3): 243–58. doi :10.1006/geno.1999.5976 . PMID 10552926 . Friedman TB, Liang Y, Weber JL, et al. (1995). "A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17". Nat. Genet . 9 (1): 86–91. doi :10.1038/ng0195-86 . PMID 7704031 . S2CID 33397422 . 
