MASS1

ADGRV1, znan i kao G-protein spregnuti receptor 98 (GPR98) ili veoma dugi G-protein spregnuti receptor 1 (VLGR1), jest protein koji je kod ljudi kodiran genom GPR98 sa hromosoma 5. Several alternatively spliced transcripts have been described.

MASS1
Identifikatori
Aliasi	ADGRV1
Vanjski ID-jevi	OMIM: 602851 MGI: 1274784 HomoloGene: 19815 GeneCards: ADGRV1
Lokacija gena (čovjek) Hrom. Hromosom 5 (čovjek) Bend 5q14.3 Početak 90,529,344 bp Kraj 91,164,437 bp
Lokacija gena (miš) Hrom. Hromosom 13 (miš) Bend 13 C2- C3|13 42.18 cM Početak 81,243,187 bp Kraj 81,781,273 bp
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • calcium ion binding • G protein-coupled receptor activity • signal transducer activity • GO:0001948, GO:0016582 vezivanje za proteine • transmembrane signaling receptor activity • G-protein alpha-subunit binding • adenylate cyclase inhibitor activity • hydrolase activity Ćelijska komponenta • citoplazma • integral component of membrane • membrana • receptor complex • ćelijska membrana • sinapsa • stereocilium • cell surface • Egzosom • photoreceptor inner segment • stereocilia ankle link • stereocilia ankle link complex • projekcija ćelije • stereocilium membrane • periciliary membrane compartment • USH2 complex Biološki proces • G protein-coupled receptor signaling pathway • response to stimulus • nervous system process • sensory perception of light stimulus • sluh • nervous system development • cell communication • cell surface receptor signaling pathway • photoreceptor cell maintenance • maintenance of animal organ identity • GO:0072468 Transdukcija signala • Vid • cell-cell adhesion • negative regulation of adenylate cyclase activity • positive regulation of protein kinase A signaling • positive regulation of bone mineralization • regulation of protein stability • establishment of protein localization • inner ear development • detection of mechanical stimulus involved in sensory perception of sound • inner ear receptor cell stereocilium organization • cellular response to calcium ion • positive regulation of protein kinase C signaling • self proteolysis Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	84059	110789
Ensembl	ENSG00000164199	ENSMUSG00000069170
UniProt	Q8WXG9	Q8VHN7
RefSeq (mRNK)	NM_032119	NM_054053
RefSeq (bjelančevina)	NP_115495	NP_473394
Lokacija (UCSC)	Chr 5: 90.53 – 91.16 Mb	Chr 13: 81.24 – 81.78 Mb
PubMed pretraga
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 6.306 aminokiselina, a molekulska težina 693.069 Da.

• 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
MSVFLGPGMP		SASLLVNLLS		ALLILFVFGE		TEIRFTGQTE		FVVNETSTTV
IRLIIERIGE		PANVTAIVSL		YGEDAGDFFD		TYAAAFIPAG		ETNRTVYIAV
CDDDLPEPDE		TFIFHLTLQK		PSANVKLGWP		RTVTVTILSN		DNAFGIISFN
MLPSIAVSEP		KGRNESMPLT		LIREKGTYGM		VMVTFEVEGG		PNPPDEDLSP
VKGNITFPPG		RATVIYNLTV		LDDEVPENDE		IFLIQLKSVE		GGAEINTSRN
SIEIIIKKND		SPVRFLQSIY		LVPEEDHILI		IPVVRGKDNN		GNLIGSDEYE
VSISYAVTTG		NSTAHAQQNL		DFIDLQPNTT		VVFPPFIHES		HLKFQIVDDT
IPEIAESFHI		MLLKDTLQGD		AVLISPSVVQ		VTIKPNDKPY		GVLSFNSVLF
ERTVIIDEDR		ISRYEEITVV		RNGGTHGNVS		ANWVLTRNST		DPSPVTADIR
PSSGVLHFAQ		GQMLATIPLT		VVDDDLPEEA		EAYLLQILPH		TIRGGAEVSE
PAELLFYIQD		SDDVYGLITF		FPMENQKIES		SPGERYLSLS		FTRLGGTKGD
VRLLYSVLYI		PAGAVDPLQA		KEGILNISRR		NDLIFPEQKT		QVTTKLPIRN
DAFLQNGAHF		LVQLETVELL		NIIPLIPPIS		PRFGEICNIS		LLVTPAIANG
EIGFLSNLPI		ILHEPEDFAA		EVVYIPLHRD		GTDGQATVYW		SLKPSGFNSK
AVTPDDIGPF		NGSVLFLSGQ		SDTTINITIK		GDDIPEMNET		VTLSLDRVNV
ENQVLKSGYT		SRDLIILEND		DPGGVFEFSP		ASRGPYVIKE		GESVELHIIR
SRGSLVKQFL		HYRVEPRDSN		EFYGNTGVLE		FKPGEREIVI		TLLARLDGIP
ELDEHYWVVL		SSHGERESKL		GSATIVNITI		LKNDDPHGII		EFVSDGLIVM
INESKGDAIY		SAVYDVVRNR		GNFGDVSVSW		VVSPDFTQDV		FPVQGTVVFG
DQEFSKNITI		YSLPDEIPEE		MEEFTVILLN		GTGGAKVGNR		TTATLRIRRN
DDPIYFAEPR		VVRVQEGETA		NFTVLRNGSV		DVTCMVQYAT		KDGKATARER
DFIPVEKGET		LIFEVGSRQQ		SISIFVNEDG		IPETDEPFYI		ILLNSTGDTV
VYQYGVATVI		IEANDDPNGI		FSLEPIDKAV		EEGKTNAFWI		LRHRGYFGSV
SVSWQLFQND		SALQPGQEFY		ETSGTVNFMD		GEEAKPIILH		AFPDKIPEFN
EFYFLKLVNI		SGGSPGPGGQ		LAETNLQVTV		MVPFNDDPFG		VFILDPECLE
REVAEDVLSE		DDMSYITNFT		ILRQQGVFGD		VQLGWEILSS		EFPAGLPPMI
DFLLVGIFPT		TVHLQQHMRR		HHSGTDALYF		TGLEGAFGTV		NPKYHPSRNN
TIANFTFSAW		VMPNANTNGF		IIAKDDGNGS		IYYGVKIQTN		ESHVTLSLHY
KTLGSNATYI		AKTTVMKYLE		ESVWLHLLII		LEDGIIEFYL		DGNAMPRGIK
SLKGEAITDG		PGILRIGAGI		NGNDRFTGLM		QDVRSYERKL		TLEEIYELHA
MPAKSDLHPI		SGYLEFRQGE		TNKSFIISAR		DDNDEEGEEL		FILKLVSVYG
GARISEENTT		ARLTIQKSDN		ANGLFGFTGA		CIPEIAEEGS		TISCVVERTR
GALDYVHVFY		TISQIETDGI		NYLVDDFANA		SGTITFLPWQ		RSEVLNIYVL
DDDIPELNEY		FRVTLVSAIP		GDGKLGSTPT		SGASIDPEKE		TTDITIKASD
HPYGLLQFST		GLPPQPKDAM		TLPASSVPHI		TVEEEDGEIR		LLVIRAQGLL
GRVTAEFRTV		SLTAFSPEDY		QNVAGTLEFQ		PGERYKYIFI		NITDNSIPEL
EKSFKVELLN		LEGGVAELFR		VDGSGSGDGD		MEFFLPTIHK		RASLGVASQI
LVTIAASDHA		HGVFEFSPES		LFVSGTEPED		GYSTVTLNVI		RHHGTLSPVT
LHWNIDSDPD		GDLAFTSGNI		TFEIGQTSAN		ITVEILPDED		PELDKAFSVS
VLSVSSGSLG		AHINATLTVL		ASDDPYGIFI		FSEKNRPVKV		EEATQNITLS
IIRLKGLMGK		VLVSYATLDD		MEKPPYFPPN		LARATQGRDY		IPASGFALFG
ANQSEATIAI		SILDDDEPER		SESVFIELLN		STLVAKVQSR		SIPNSPRLGP
KVETIAQLII		IANDDAFGTL		QLSAPIVRVA		ENHVGPIINV		TRTGGAFADV
SVKFKAVPIT		AIAGEDYSIA		SSDVVLLEGE		TSKAVPIYVI		NDIYPELEES
FLVQLMNETT		GGARLGALTE		AVIIIEASDD		PYGLFGFQIT		KLIVEEPEFN
SVKVNLPIIR		NSGTLGNVTV		QWVATINGQL		ATGDLRVVSG		NVTFAPGETI
QTLLLEVLAD		DVPEIEEVIQ		VQLTDASGGG		TIGLDRIANI		IIPANDDPYG
TVAFAQMVYR		VQEPLERSSC		ANITVRRSGG		HFGRLLLFYS		TSDIDVVALA
MEEGQDLLSY		YESPIQGVPD		PLWRTWMNVS		AVGEPLYTCA		TLCLKEQACS
AFSFFSASEG		PQCFWMTSWI		SPAVNNSDFW		TYRKNMTRVA		SLFSGQAVAG
SDYEPVTRQW		AIMQEGDEFA		NLTVSILPDD		FPEMDESFLI		SLLEVHLMNI
SASLKNQPTI		GQPNISTVVI		ALNGDAFGVF		VIYNISPNTS		EDGLFVEVQE
QPQTLVELMI		HRTGGSLGQV		AVEWRVVGGT		ATEGLDFIGA		GEILTFAEGE
TKKTVILTIL		DDSEPEDDES		IIVSLVYTEG		GSRILPSSDT		VRVNILANDN
VAGIVSFQTA		SRSVIGHEGE		ILQFHVIRTF		PGRGNVTVNW		KIIGQNLELN
FANFSGQLFF		PEGSLNTTLF		VHLLDDNIPE		EKEVYQVILY		DVRTQGVPPA
GIALLDAQGY		AAVLTVEASD		EPHGVLNFAL		SSRFVLLQEA		NITIQLFINR
EFGSLGAINV		TYTTVPGMLS		LKNQTVGNLA		EPEVDFVPII		GFLILEEGET
AAAINITILE		DDVPELEEYF		LVNLTYVGLT		MAASTSFPPR		LDSEGLTAQV
IIDANDGARG		VIEWQQSRFE		VNETHGSLTL		VAQRSREPLG		HVSLFVYAQN
LEAQVGLDYI		FTPMILHFAD		GERYKNVNIM		ILDDDIPEGD		EKFQLILTNP
SPGLELGKNT		IALIIVLAND		DGPGVLSFNN		SEHFFLREPT		ALYVQESVAV
LYIVREPAQG		LFGTVTVQFI		VTEVNSSNES		KDLTPSKGYI		VLEEGVRFKA
LQISAILDTE		PEMDEYFVCT		LFNPTGGARL		GVHVQTLITV		LQNQAPLGLF
SISAVENRAT		SIDIEEANRT		VYLNVSRTNG		IDLAVSVQWE		TVSETAFGMR
GMDVVFSVFQ		SFLDESASGW		CFFTLENLIY		GIMLRKSSVT		VYRWQGIFIP
VEDLNIENPK		TCEAFNIGFS		PYFVITHEER		NEEKPSLNSV		FTFTSGFKLF
LVQTIIILES		SQVRYFTSDS		QDYLIIASQR		DDSELTQVFR		WNGGSFVLHQ
KLPVRGVLTV		ALFNKGGSVF		LAISQANARL		NSLLFRWSGS		GFINFQEVPV
SGTTEVEALS		SANDIYLIFA		ENVFLGDQNS		IDIFIWEMGQ		SSFRYFQSVD
FAAVNRIHSF		TPASGIAHIL		LIGQDMSALY		CWNSERNQFS		FVLEVPSAYD
VASVTVKSLN		SSKNLIALVG		AHSHIYELAY		ISSHSDFIPS		SGELIFEPGE
REATIAVNIL		DDTVPEKEES		FKVQLKNPKG		GAEIGINDSV		TITILSNDDA
YGIVAFAQNS		LYKQVEEMEQ		DSLVTLNVER		LKGTYGRITI		AWEADGSISD
IFPTSGVILF		TEGQVLSTIT		LTILADNIPE		LSEVVIVTLT		RITTEGVEDS
YKGATIDQDR		SKSVITTLPN		DSPFGLVGWR		AASVFIRVAE		PKENTTTLQL
QIARDKGLLG		DIAIHLRAQP		NFLLHVDNQA		TENEDYVLQE		TIIIMKENIK
EAHAEVSILP		DDLPELEEGF		IVTITEVNLV		NSDFSTGQPS		VRRPGMEIAE
IMIEENDDPR		GIFMFHVTRG		AGEVITAYEV		PPPLNVLQVP		VVRLAGSFGA
VNVYWKASPD		SAGLEDFKPS		HGILEFADKQ		VTAMIEITII		DDAEFELTET
FNISLISVAG		GGRLGDDVVV		TVVIPQNDSP		FGVFGFEEKT		VMIDESLSSD
DPDSYVTLTV		VRSPGGKGTV		RLEWTIDEKA		KHNLSPLNGT		LHFDETESQK
TIVLHTLQDT		VLEEDRRFTI		QLISIDEVEI		SPVKGSASII		IRGDKRASGE
VGIAPSSRHI		LIGEPSAKYN		GTAIISLVRG		PGILGEVTVF		WRIFPPSVGE
FAETSGKLTM		RDEQSAVIVV		IQALNDDIPE		EKSFYEFQLT		AVSEGGVLSE
SSSTANITVV		ASDSPYGRFA		FSHEQLRVSE		AQRVNITIIR		SSGDFGHVRL
WYKTMSGTAE		AGLDFVPAAG		ELLFEAGEMR		KSLHVEILDD		DYPEGPEEFS
LTITKVELQG		RGYDFTIQEN		GLQIDQPPEI		GNISIVRIII		MKNDNAEGII
EFDPKYTAFE		VEEDVGLIMI		PVVRLHGTYG		YVTADFISQS		SSASPGGVDY
ILHGSTVTFQ		HGQNLSFINI		SIIDDNESEF		EEPIEILLTG		ATGGAVLGRH
LVSRIIIAKS		DSPFGVIRFL		NQSKISIANP		NSTMILSLVL		ERTGGLLGEI
QVNWETVGPN		SQEALLPQNR		DIADPVSGLF		YFGEGEGGVR		TIILTIYPHE
EIEVEETFII		KLHLVKGEAK		LDSRAKDVTL		TIQEFGDPNG		VVQFAPETLS
KKTYSEPLAL		EGPLLITFFV		RRVKGTFGEI		MVYWELSSEF		DITEDFLSTS
GFFTIADGES		EASFDVHLLP		DEVPEIEEDY		VIQLVSVEGG		AELDLEKSIT
WFSVYANDDP		HGVFALYSDR		QSILIGQNLI		RSIQINITRL		AGTFGDVAVG
LRISSDHKEQ		PIVTENAERQ		LVVKDGATYK		VDVVPIKNQV		FLSLGSNFTL
QLVTVMLVGG		RFYGMPTILQ		EAKSAVLPVS		EKAANSQVGF		ESTAFQLMNI
TAGTSHVMIS		RRGTYGALSV		AWTTGYAPGL		EIPEFIVVGN		MTPTLGSLSF
SHGEQRKGVF		LWTFPSPGWP		EAFVLHLSGV		QSSAPGGAQL		RSGFIVAEIE
PMGVFQFSTS		SRNIIVSEDT		QMIRLHVQRL		FGFHSDLIKV		SYQTTAGSAK
PLEDFEPVQN		GELFFQKFQT		EVDFEITIIN		DQLSEIEEFF		YINLTSVEIR
GLQKFDVNWS		PRLNLDFSVA		VITILDNDDL		AGMDISFPET		TVAVAVDTTL
IPVETESTTY		LSTSKTTTIL		QPTNVVAIVT		EATGVSAIPE		KLVTLHGTPA
VSEKPDVATV		TANVSIHGTF		SLGPSIVYIE		EEMKNGTFNT		AEVLIRRTGG
FTGNVSITVK		TFGERCAQME		PNALPFRGIY		GISNLTWAVE		EEDFEEQTLT
LIFLDGERER		KVSVQILDDD		EPEGQEFFYV		FLTNPQGGAQ		IVEEKDDTGF
AAFAMVIITG		SDLHNGIIGF		SEESQSGLEL		REGAVMRRLH		LIVTRQPNRA
FEDVKVFWRV		TLNKTVVVLQ		KDGVNLVEEL		QSVSGTTTCT		MGQTKCFISI
ELKPEKVPQV		EVYFFVELYE		ATAGAAINNS		ARFAQIKILE		SDESQSLVYF
SVGSRLAVAH		KKATLISLQV		ARDSGTGLMM		SVNFSTQELR		SAETIGRTII
SPAISGKDFV		ITEGTLVFEP		GQRSTVLDVI		LTPETGSLNS		FPKRFQIVLF
DPKGGARIDK		VYGTANITLV		SDADSQAIWG		LADQLHQPVN		DDILNRVLHT
ISMKVATENT		DEQLSAMMHL		IEKITTEGKI		QAFSVASRTL		FYEILCSLIN
PKRKDTRGFS		HFAEVTENFA		FSLLTNVTCG		SPGEKSKTIL		DSCPYLSILA
LHWYPQQING		HKFEGKEGDY		IRIPERLLDV		QDAEIMAGKS		TCKLVQFTEY
SSQQWFISGN		NLPTLKNKVL		SLSVKGQSSQ		LLTNDNEVLY		RIYAAEPRII
PQTSLCLLWN		QAAASWLSDS		QFCKVVEETA		DYVECACSHM		SVYAVYARTD
NLSSYNEAFF		TSGFICISGL		CLAVLSHIFC		ARYSMFAAKL		LTHMMAASLG
TQILFLASAY		ASPQLAEESC		SAMAAVTHYL		YLCQFSWMLI		QSVNFWYVLV
MNDEHTERRY		LLFFLLSWGL		PAFVVILLIV		ILKGIYHQSM		SQIYGLIHGD
LCFIPNVYAA		LFTAALVPLT		CLVVVFVVFI		HAYQVKPQWK		AYDDVFRGRT
NAAEIPLILY		LFALISVTWL		WGGLHMAYRH		FWMLVLFVIF		NSLQGLYVFM
VYFILHNQMC		CPMKASYTVE		MNGHPGPSTA		FFTPGSGMPP		AGGEISKSTQ
NLIGAMEEVP		PDWERASFQQ		GSQASPDLKP		SPQNGATFPS		SGGYGQGSLI
ADEESQEFDD		LIFALKTGAG		LSVSDNESGQ		GSQEGGTLTD		SQIVELRRIP
IADTHL

Struktura

Adhezijski GOCR VLҐR1 je najveći od poznatih GOCR, sa sekvencom od 6.300 aminokiselina i sa 90 egzona. Postoji osam varijanti transkripta VlgR1, pod nazivom VlgR1a-1e i Mass1.1-1.3. N-terminal sastoji se od 5.800 aminokiselina koje sadrže 35 Calx-beta domen, jedan domen pentraksina i jedno ponavljanje povezano sa epilepsijom. Sadrži C-terminalni 7-transmembranski receptorski domen, dok veliki N-terminalni segment (5.900 ostataka) uključuje 35 vezivanja kalcija Calx-beta domena i šest EAR-domena

Funkcija

Ovaj gen kodira člana adhezije GPCR. Protein vezuje kalcij i eksprimira se u centralnom nervnom sistemu. Poznat je i kao "veoma veliki receptor 1 povezan sa G-proteinom" jer ima 6.300 ostataka. Pokazalo se da mutacije VlgR1 dovode do Usherovog sindroma. Nokauti Vlgr1 kod miševa fenokopiraju Usherov sindrom i dovode do audiogenih napada

Evolucija

Genom morskog ježa u sebi ima homologa VLGR1.

Klinički značaj

Mutacije u ovom genu povezane su sa Usherovim sindromom 2 i porodičnim febrilnim napadima.

Dopunska literatura

• Staub E, Pérez-Tur J, Siebert R, et al. (2002). "The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders". Trends Biochem. Sci. 27 (9): 441–4. doi:10.1016/S0968-0004(02)02163-1. PMID 12217514.
• Ishikawa K, Nagase T, Suyama M, et al. (1998). "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (3): 169–76. doi:10.1093/dnares/5.3.169. PMID 9734811.
• Nakayama J, Hamano K, Iwasaki N, et al. (2000). "Significant evidence for linkage of febrile seizures to chromosome 5q14-q15". Hum. Mol. Genet. 9 (1): 87–91. doi:10.1093/hmg/9.1.87. PMID 10587582.
• Pieke-Dahl S, Möller CG, Kelley PM, et al. (2000). "Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q". J. Med. Genet. 37 (4): 256–62. doi:10.1136/jmg.37.4.256. PMC 1734554. PMID 10745043.
• Nikkila H, McMillan DR, Nunez BS, et al. (2001). "Sequence similarities between a novel putative G protein-coupled receptor and Na+/Ca2+ exchangers define a cation binding domain". Mol. Endocrinol. 14 (9): 1351–64. doi:10.1210/me.14.9.1351. PMID 10976914.
• Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
• Skradski SL, Clark AM, Jiang H, et al. (2001). "A novel gene causing a mendelian audiogenic mouse epilepsy". Neuron. 31 (4): 537–44. doi:10.1016/S0896-6273(01)00397-X. PMID 11545713. S2CID 14468960.
• McMillan DR, Kayes-Wandover KM, Richardson JA, White PC (2002). "Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system". J. Biol. Chem. 277 (1): 785–92. doi:10.1074/jbc.M108929200. PMID 11606593.
• Nagase T, Kikuno R, Ohara O (2002). "Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins". DNA Res. 8 (6): 319–27. doi:10.1093/dnares/8.6.319. PMID 11853319.
• Nakayama J, Fu YH, Clark AM, et al. (2002). "A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures". Ann. Neurol. 52 (5): 654–7. doi:10.1002/ana.10347. PMID 12402266. S2CID 36357793.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Weston MD, Luijendijk MW, Humphrey KD, et al. (2004). "Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II". Am. J. Hum. Genet. 74 (2): 357–66. doi:10.1086/381685. PMC 1181933. PMID 14740321.
• Bjarnadóttir TK, Fredriksson R, Höglund PJ, et al. (2005). "The human and mouse repertoire of the adhesion family of G-protein-coupled receptors". Genomics. 84 (1): 23–33. doi:10.1016/j.ygeno.2003.12.004. PMID 15203201.
• Fu GK, Wang JT, Yang J, et al. (2005). "Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes". Genomics. 84 (1): 205–10. doi:10.1016/j.ygeno.2004.01.011. PMID 15203218.
• Schwartz SB, Aleman TS, Cideciyan AV, et al. (2005). "Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype". Invest. Ophthalmol. Vis. Sci. 46 (2): 734–43. doi:10.1167/iovs.04-1136. PMID 15671307.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.

Vanjski linkovi

• GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type II