Молекулярно-генетический анализ тапеторетинальной абиотрофии в Республике Башкортостан
Диссертация
В настоящее время доказано, что разнообразие клинически выраженных" стертых н переходных форм ТРА обусловлено различными мутациями в генах" кодирующих белки каскада фототрансдукцин. интоскелета фоторецепторов н пигментного эпителия сетчатки. Наиболее частой причиной возникновения TP, А являются мутации в генах родопсина (RHQ)t переферина (RDS1' PR PHI) и транеретннальацетнлазы {RPE65). Однако… Читать ещё >
Содержание
- СПИСОК СОКРАЩЕНИЙ
- ГЛАВА 1. ОБЗОР ЛИТЕРАТУРЫ
- Д ЭПИДЕМИОЛОГИЯ ТАПЕТОРЕТИНАЛЬНОЙ АБИОТРОФИИ
- 12. КЛАССИФИКАЦИЯ ТАПЕТОРЕТИНАЛЬНОЙ АБИОТРОФИП.] ]
- 1. 3. КЛИНИЧЕСКАЯ КАРТИНА И ЛЕЧЕ11ИЕ ТАПЕТОРЕТИНАЛЬНОЙ
- 1. 4. ПАТОГЕНЕЗ ТАПЕТОРЕТИНАЛЬНОЙ АБИОТРОФИИ. IS
- 1. 4−1 Анатомия к нейрофизиология сетчатки. IS
- 1. 4. 2. Молекулярные механизмы зрительной рецепнни
- 1. 4. 3. Патогенетические механизмы таютрретн яальноН (Ли1>:-К1фна. j гены и их продукты, участвующие в патогенезе
- 12. КЛАССИФИКАЦИЯ ТАПЕТОРЕТИНАЛЬНОЙ АБИОТРОФИП.] ]
- 1. 5. 1. Ген родопсина RNO.,
- 1. 5. 2. Строение н функции барка RHQ.""
- 1. 5. 3. Мутации, а гене RHO.".,
- 1. 5. 4. Ген периферия"RDS/PRFH
- 1. 5−5 Строение н функции белка пернферкна RDS/PRPH
- I. 5.6Мутяиш, а гене RDS/PRP/K
- I. J.7 Ген трансретннальацргшЕазы RPE
- 1. 5. 8. Строение и функции белка КРЕ65.&bdquo-&bdquo-,
- 1. 5. 9. Мутаини в гене RPE
- 1. 6. АМАВРОЭ ЛЕБЕРА
Список литературы
- Ахмадеева Л.Р. Наследственные нервно-мышечные заболевания в Республике Башкортостан: автореф. дне. д-ра мед. наук. Пермь. 2001. -39 с.
- Всероссийская перепись населения 2002 года. wvw. perepis2002-ru/i ndex. html
- Гинтер Е. К. Хлебникова О. В. Хяатова А. В. Проспективное и ретроспективное медико-генетическое консультирование семей с эфгальмопатологией в популяциях с высокой частотой кровнородственных браков. М.: Мннздравмедпром РФ. 1995. 17с,
- Гинтер Е.К. Медицинская генетика. М.: Медицина, 2003. 448с.
- Деев Л.А., Ярцева Н. С. Анатомия органа зрения. М.: Наука, 2003. 150с.
- Демографические процессы в Республике Башкортостан: статистический сборник. Комитет государственной статистики Республики Башкортостан. Уфа. 2004. — 77 с,
- Жнвотовский Л.А. Популяцнонная биометрия. М.: Наука. 1991. С. 128 130.
- Информационно-аналитическая и вычислительная система «Федеральный Генетический Регистр» / Б. А. Кобринекий. И. Б, Тестер. А. Е. Фельдман (и лр,. // Компьютерная хроника. 2000. -№ 1,-С. 77−96.
- Каламкароа Г. Р., Островский М. А. Молекулярные механизмы зрительной рецепции. М.: Наука. 2002. — 279с.
- Кацнельсон Л.А. Классификация атеросклеротическнх и наследственных дистрофий хорнонлеи и сетчатки // Вести, офтальм. -1973. 6, С-14 -20,
- Кобринскнн. Б.А. Компьютерная поддержка врачебных решений, а педиатрии: регистр и диагностическая система по наследственным болезням / Б, А, Кобринский Н Вестник Всесоюзного общества информационной и вычислительной техники.. 991. — № 1. — С. 20 — 25,
- З.Копаева В. Г. Глазные болезни. М.: Медицина, 2002. — 560с,
- Кутуев, И.А. Анализ гена хореи Гентинпона у больных и в популяциях Вал го-уральского региона: дне. канд. мед. наук. Уфа, 2002, — 141 с.
- Липким В.М. Зрисельная система. Механизмы передачи к усиления зрительнот сигнала в сетчатке глаза // СОЖ 2001. — № 9. — С. 2 — 8.
- Мухай М.Б., Зннченко Р. А. Хлебникова О.В. Распространенность н клинический полиморфизм наследственной офтальмопатологнн в четырех районах тверской области // Медицинская генетика 2006. — № 12.-С. 13−18.
- Овчинников Ю.А., Абдуллаев Н. Г., Фейгнна М. Ю. Полная аминокислотная последовательность родопсина И Биооргаи. Химия. -.*>S2. -Л? 8,-С. 1011 1014.
- Пантелеева О.А. Клннико-генетнческие исследования тапеторетинальных дегенераций. Автореф. Дне.канд. мед. наук.М. 1970.- 250 с,
- Сомов Е.Е. Клиническая офтальмология, М. Медицина 2005, 392с.
- Структура генетического регистра врожденных пороков развития и наследственных болезней в Литве / В. К. Кучннскас. П. И. Мощннскас, Л. А. Цимбал нетене |н др.) //Тезисы докладов 2-го Всесоюз. съезда мед. генетиков. М., 1990. — С. 535−536.
- Филиппов П.П., Аршавский 8.Ю., Днжур А. М, Биохимия зрительной рецепции. М.: ВИНИТИ, 1997, 117с.
- Шамшинова A.M. (Наследственные и врожденные заболевания сетчатки и зрительного нерва. М: Медицина. 2001. — 528 с, t5923.11амшннова A.M. Волков В. В. Функциональные исследования в офтальмологии, М: Медицина, 2005, — 416с.
- Acuso C-. Garcia Sandoval В., Najcra С et al. Retinitis pigmentosa in Spain. Spanish Multicentric and Multidiscipllmuy Group for Research // Clin. Genet. 1995 — Vol, 48., Jfc 3. — P 120−122.
- Alloway P.G., Howard L. Dolph P.J. The formation of stable rhodopsin-arrest in complexes induces apoptosis and photoreceptor cell degeneration U Neuron 2000. — Vol. 28. — P. 129−138.
- Andres A. Garriga P., Manyosa J. Altered functionality in rhodopsin point mutants associated with retinitis pigmentosa It Biochem. Bjophys. Res. Commun. 2003- - Vol. 28. — P. 294−301.
- Aimaca L.S., Sagli B.S., Akarsu N. Genclik features оГretinitis pigmemtoso in Turkey ft Doc. Ophthalmol. 1995. — Vol. 89, № 4. — P. 337−392.
- BareiI C-. Dclague V., Arnaud В., Demaille J., Наше! С., Claustres M. W179R: A novel missense mutation in the peripherin/RDS gene in a family with autosomal domrnani retinitis pigmentosa // Hum. Mutat. 2000. — Vol. II.-P. 137−142.
- Bavik C.O., Busch C., Eriksson U. Characterization of a plasma retinol-binding protein membrane receptor expressed in the retinal pigment epithelium //J. Biol. Chem. 1992. — Vol. 267. — P. 23 035−23 042.
- Bennett J. Tanabe Т., Sun D" Zeng Y, Kjcldbvc H-, Gouras P. Maguire A. M, Photoreceptor cell rescue in retinal degeneration (rd) mice by in vivo gene therapy П Nature Med, 1996, — Vol. 2. — P. 649−654.
- Berson H.L., Rosner В. We igcl-Di Franco С., Dryja T.P., Sand berg M.A. Disease progression in patients with dominant retinitis pigmentosa and rhodopsin mutations // Invest, Ophthalmol. Vis. Sci. 2002, — Vol, 43, № 9. -P. 3027−3036.
- Bcssanl DA, Kaushal S., Bhattacharya S.S. Genetics and biology of the inherited retinal dystrophies. In: Kaufman P.L., Aim A., eds. Adler’s Physiology of the Eye, 10th ed, St Louis- Mosby. 2003. ~ P. 358−381.
- Bessant DA, Payne A.M., Mitton K.P., Wang Q.L., Swain P.K., Plant C., Bird A.C. Zack D. J" Swaroop A" Bhattacharya S.S. A mutation in NRL is associated with autosomal dominant retinitis pigmenios // Nat. Genet. 1999, — Vol, 21 -P, 355−356
- Birch D.G., Fish G.E. Rod ERGs in retinitis pigmentosa and con-rod degeneration К Invest, Ophthalmol, Vis. Sci. 1987 — Vol. 28. — P 140−150.
- Bok D, Photoreceptor «retinoid pumps» in health and disease // Neuron 1999. -Vol. 23-P. 412*414.
- Boughman J.A., Conneally P.M., Nance W E. Population genetic studies of retinitis pigmentosa it Am. J. Hum. Genet. 1980. — Vol. 32, — P. 223−235.
- Bourne H.R., Meng H. C Rhodopsin sees the light // Science 2000. — Vol, 289. — P. 733−734.
- Rundey S., Crews S.J., A study of retinitis pigmentosa in the City of Birmingham // J. Med. Genet. 1984. — Vol, 21. — P. 417−420.
- Caiison A. Role of cellular teiinaldehyde-binding protein and interphotonccepior retinoid-binding protein in retinoid transport and metabolism in the mammalian retina dissertation., Los Angeles- Univ. of California- 1994. -667p,
- Chuang 1.2., Vega C, Jun W., Sung C.H. Structural and functional impairment of cndocyiic pathways by retinitis pigmentosa mutant rhodopsin-arrestin complexes H J. Clin. Invest. 2004. — Vol, 114. — P. 131−140.
- Stargardt’s disease gene ABCR ti Hum. МЫ- Genet. 1998. — Vol. 7 — P. 355 362.
- Cremers F.P. van den Murk J.A., den Hollander AX Molecular genetics of Leber congenital amaurosis // Hum. Molec, Genet. 2002, — Vol, II. — P. 1169−1176.
- Damek-Poprawa M., Krouse J. Gretzula C" Boesxe-attaglia K. A Novel Tetraspanin Fusion Protein, Peripherin-2. Requires a Region Upstream of the Fusion Domain for Activity U J. Biol. Chem. 2005, — Vol. 280, № 10. — P. 9217−9224.
- Danciger M., Qlaney J-, Gao Y.Q., Zhao D.Y., Hecken lively J R., Jacobson S. G" Fartwr D.B. Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa If Genomics- 1995, Vol. 30. — P. 1 -7,
- Dharmaraj S, Li Y., Robitaille J. M., Silva E.+ Zhu D., Mitchell T. N" Maltby L P. BafFoc-Bonnie A.B. Maumenee LH. A novel locus for Leber congenital amaurosis maps to chromosome 6q // Am. J. Hum. Genet. 2000. — Vol. 66. -P. 319−326.
- Drkshii M-. Agarwal R. Mutation analysis ofcodons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients // J, Genet. 2001 — Vol. 80. — P. П1-П6.
- Donis-Keller H. Green P. Helms C, Cartinhour S" Weiffcnbach В., Stephens К, Keith Т Р., Bowden D.W., Smith D.R., Lander E.S., Botstcin D., Akots G. et al, A genetic linkage map of the human genome И Cell 1987. — Vol. 51.-P. 319−337.
- Dryja T.P., Berson E. L, Rao V.R., Oprian D. D, Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness it Nat. Genet 1993 — Vol. 4. — P. 280−283.
- Dryja Г. P., Hahn L.B., Reboul Т., Amaud B, Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness // Nat.Genct. 19%, — Vol. 13. — P. 358 360.
- Dryja T.P., l-i T. Molecular genetics of retinitis pigmentosa ti Hum. Mol. Genet. -1995 Vol. 4, — P, 1739−1743 b.
- Duke-Elder S-. Dobrcc J.H. System of ophthalmology. Vol. X. Diseases of the retina, London: Henry Kimpton. 1967. — 878 p,
- Ehinger B, Transplantation of photoreceptors and of full thickness retina //Abstracts of 10th World Conference of IRPA (International Retinitis Pigmentosa Association). Lugano, 1998, — P. 16,
- Ehrlich D. A comparative study in the use of closed-circuit television reading mashincs and optical aids by patients with retinitis pigmentosa and maculopathy // Ophthalmic. Physiol. Opt. 1987. — Vol. 7, — P. 293−302.
- E!ias R.V. Sezatc S.S., Cao W., McGinms J.F. Temporal kinetics of the light/dark translocation and compartmentation of arrestin ami alphatransducin in mouse photoreceptor cells // Mol. Vis, 2004. — Vol. 10. — P. 672−681.
- Elliott R.W. Sparkes R.S., Mohandas T" Gram S.G., McGinnis J.F. Localization of the rhodopsin gene to die distal half of mouse chromosome 6 U Genomics- 1990. Vol. 6. — P. 635−644.
- Farrar G.J., Kenna P., Jordan S, A. el al. A three base-pair deletion in the pcriphcrin-RDS gene in one form of retinitis pigmentosa И Nature 1991. -Vol.354,-P, 478−480 b.
- Faurobert E, I lurley J.B. The cone domain of a new retina specific RGS protein stimulates the GTPase activity of uansducin in vitro U Proc, Natl, Acad. Sci. USA. 1997. — Vol. 94. = P. 2945 — 2950.
- Fein A. Szuts E.2. Photoreceptors: Their role in vision: Cambridge, 1982. -132 p.
- Felius J., Thompson DA. Khan N. W" Bingham E. L-, Jamison J-A,. Kemp J A, Sieving P.A. Clinical course and visual function in a family with mutations in ihc RPE65 gene tt Arch. Ophthal. 2002. — Vol. 120. — P. 55 — 6t.
- Fishman GA, Stone E.M., Gilbert L.D., Sheffield V.C. Ocular findings associated with a rhodopsin gene codon 106 mutation: glycine-to-arginine change in autosomal dominant retinitis pigmentosa U Arch, Ophthal. 1992. -Vol. 110.-P. 646 — 653.
- Fouadis D., Liang Y. Filipek S. Saperstein D. A., IHngel A. Palczewski K. Rhodopsin dimers in native disc membranes: neat rows of paired photon receptors are caught on camera in their natural stale U Nature 2003. — Vol. 42).-P. 127 * 128.
- SO.Franeeschetti A., Dieterle P. L’i importance diagnostique de I’eleetronjtirvogramme dans les degenerescences lapeto-retineitnes avec retrecissement du champ visuel et hemeraJopie И Conf, Neurol, 1954. — Vol 14. -P. 184- 186.
- Freund C.L., Wang Q. L" Chen S" Muskat B.L., Wiles C.D. Sheffield V.C., jacobson S. G-, Mclnnes R.R., Zack D.J., Stone E.M. De novo mutations in the CRX homcobox gene associated with Leber congenital amaurosis // Nat. Genet. 1998.-Vol. 18. — P. 311−312.
- Fumkawa Т. Morrow E.M., Li T" Davis F.C. Ccpko CL. Retinopathy and attenuated circadian cntrainmcnt in Crx-deficient mice // Nat Genet. 1999. -2 3. — P. 466−470,
- Gal Л. Artlich A. Ludwig M. Niemeyer G" OJek K" Sehwinger E" Schinzel A. Pro347-to-arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa // Genomics 1991 — Vol II. — P 468 — 470.
- Gal A., Orth U" Baehr W., Schwinger E., Rosenberg T. Heterozygous missense mutation in the rod cGMP phosphodiesterase bcta-subunit gene in autosomal dominant stationary night blindness // Nat. Genet. 1994. — Vol. 7.- P. 64−68.
- GollapaUi D R., Maiti P., Rando R.R. RPE65 operates in the vertebrate visual cycle by stereospecificalJy binding all-trans-retiny. esters // Biochemistry -2003. Vol 42- - P. 11 824 — 1830.
- Green E.$" Men/ M.D., LaVail M-M.r Flannery J. G, Characterization ofrhodopsin mis-sorting and constitutive activation in a transgenic rat model of retinitis pigmentosa П Invest. OphthaJmol. Vis. Sci. 2000. — Vol. 41. — P. 1546- 1553.
- Gregory-Evan5 K-, Bhattaeharya S.S. Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies U Trends Genet. 1998. -Vol. 14.- P. 103−108.
- GrondaM J Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway // Clin. Genei. 1987. — Vol. 31. — P. 255 -264.
- Gal A. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy // Nat. Genet. 1997. — Vol. 17 — P. 194−197.
- Haim M. Epidemiology of retinitis pigmentosa in Denmark H Acta ophtalmol Scand. Suppl. 2002. — Vol, SO. — P. I — 34.
- Mantel CP. Retinitis pigmentosa. Review.// Orphanet Journal of Rare Diseases. 2006. — Vol, 13. — P. t — 40.
- Hamel C, P. Jenkins N.A., Gilbert D.J. Copeland N. G,. Redmond T.M. The gene for the retinal pigment epithelium-specific protein RPE65 is localized to human 1рЗ I and mouse 3 fi Genomics 1994. — Vol. 20. — P. 509−512,
- Hao W. Wenzcl A, Obin M.S., Chen C.K., Brill E. Evidence for two apoptotic pathways in light-induced retinal degeneration // Nature Genetics -2002. Vol. 32. — P. 254 — 260.
- Margrave P.A. Rhodopsin structure, function, and topography the Friedenwald lecture H Invest, Ophtalmol. Visual ScL 2001. — Vol. 42. — P, 3 -9.
- Heckenlively J The frequency of posterior subcapsular cataract in the hereditary retinal degenerations // Am. J. Ophthalmol. 1982. • Vol. 93, № 4. — P, 733 — 738,
- Heckenlively J. R" Nowakowski R,. Fishman G., Gouras P. Nathans J. Rhodopsin mutations in autosomal dominant retinitis pigmentosa // Proc- Nat Acad. Sci. 1991. — Vol. 88. — P, 6481 — 6485,
- Hcmlcr M.T. Specific tetraspanin ftinctions H «Hie Journal of Cell Biology. 200!, — Vol. 155, № 7. — P. 1103 — 1107.
- Hims MM. Digger S.P., Inglchearn C. F, Retinitis pigmentosa: genes, proteins and prospects // Dev. Ophthalmol 2003. — Vol, 37, — P. 109 — 125.
- Hsu Y. Th Motday R, S, Modulation of the cGMP-gaten channel of rod photoreceptor cells by calmodulin U Nature. 1993. — Vol.361. — P 76 — 79.
- Huang S.H. Pittler S.J., Huang X., Oliveira L., Berson E.L.t Dryja T P. Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase // Nat, Genet, 1995. — Vol, II. — P. 468−471.
- Huber A. Genetic disca. scs of vision // Curr. Ophih. Neurol. 1994, -Vol 7,№ l.-P 65 -68.
- Humphries P., Ferrer G.I., Kenna P, et al, Retinitis pigmentosa: genetic mapping in X-linked and autosomal forms of the disease // СI in, Genet, 1990, -Vol. 38, № 1,-P. ЫЗ.
- Jordan S. A, Fairer GJ» Kumar-Singhe R, Et al, Autosomal dominant retinitis pigmentosa (adRP- RP6): Cosegregation of RP6 and peripherin-RDS locus in late-onset fsmily of Irish origin /I Amcr. J. Hum. Genet, 1992. -Vol. 50.-P. 634−639,
- Kajhwara K" Berson E. L, Drvja T. P, Digenic retinitis pigmentosa due to mutations at the unlinked periphcrin/RDS and ROMI loci // Science, 1994. -V 264, — P. 1604- 1608.
- Kajiwara К., Hahn L.B., Mukal S., Travis G.H. Berson EX., Dryja T.P. Mutations in the human retina) degeneration slow gene in autosomal dominant retinitis pigmentosa// Nature, 199L — V. 354. — P. 480 — 483.
- Kalloniatis M. and Fletcher E. L, Retinitis pigmentosa: understanding the clinical presentation, mechanisms and treatment options // Clin, Exp. Optom, -2004 Vol. 87, № 2. — P 65−80.
- Kaupp U.B., Seifert R. Cyclic nucleotide-gated ion channels // Physiol. Rcv, 2002. — Vol. 82. — P 769 — 824.
- Keen T.J. Inglehearn C. F, Lester D.H. Bashir R., Jay M. Bird AC., Jay B, Bhattacharya S, S, Autosomal dominant retinitis pigmentosa: tour new mutations in rhodopsin, one of them in the retinal attachment site // Genomics 1991 — Vol. EL-P. 199 — 205.
- Khorana H.G. Rhodopsin, photoreceptor of the rod cell- an emerging pattern for structure and function // J. Biol. Chem. 1992, — Vol. 267. — P. 1−4.
- Kiselev A. et at. A molecular pathway tor light-dependent photoreceptor apoptosis in Drosophila И Neuron. 2000, — Vol, 28. — P. 139−152.
- Kissclcv O.G., Meyer C, K" Heck M. et al. Signal transfer from rhodopsin to the G-prolcin: evidence for a two-site sequential fit mechanism I/ Proc. NaL Acad. Sci. Usa. 1999. — Vol. 96. — P, 4898−4903.
- Kloer DP., Ruch S., Al-Babili S" Beyer P., Schulz G.E. The structure of a retinal-forming carotenoid oxygenase // Science 2005. — Vol. 308. — P. 267 -269,
- Lambert S.R., Sherman S., Taylor D., Kriss A., Coffey R., Pembrey M. Concordance and recessive inheritance of Leber congenital amaurosis // Am. J. Med Genet. 1993. — Vol. 46. — P. 275 — 277.
- Leber T. Ueber anomale Formen der Retinitis pigmentosa H Albrecht von Graefes Arch. Ophthal. 1871. — Vol. 17. — P. 314 — 340.
- Li И. Volpp K, Applcbury M.L. Bovine cone photoreceptor cGMP phosphodiesterase structure deduced from a cDNA clone // Proc, Natl. Acad. Sci. USA. 1990. — Vol. 87. — P. 293 — 297.
- Li J. Edwards P.C. Burghammer M. Villa C" Schcnler G.F. Structure of bovine rhodopsin in a trigonal crystal form It J. Mol. Biol. 2004. — Vol. 343.- P. 1409- 1438.
- Lin S.W., Han M" Sakmar T, P, Analysis of functional microdomains of rhodopsin // Meth, Enzymol 2000. — Vol. 315. -P. 116 — 130.
- Loewen C.J.t Moritz O.L., Molday R.S. Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa H J Biol. Chem. 2001. — Vol. 276. — P. 22 388 — 22 396.
- Lund R.D., К wan A.S., Keegan D.J., Sauve Y., Coffey PJ-t Lawrence J.M. Cell transplantation as a treatment for retinal disease It Prog. Retin. Eye Res. 200L- Vol. 203. — P 415- 449,
- Marlhens FM GrifToin J.M., Barcil C. Arnaud В., Clauslres M, Hamel
- C.P, Autosomal recessive retinal dystrophy associated with two novel mutations in die RPE65 gene И Eur J Hum GeneL. 1998. — Vol. 6. — P. 527 -531.
- Martine/.-Mir A., Paloma E., Allikmets R. Ayuso C. del Rio Т. Dean M., Vilageliu L. Gonzale/.-Duarte R. Balcells S. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR // Nat. GeneL 1998.-Vol, 18- P, 11−12.
- Massof R.W., Dagnefie G-, BerazschaweJ Т. Palmer R.W., Finkcbtein
- D. First order dynamics of visual field loss in retinitis pigmentosa И Clin. Vis. Set. 1990. — Vol. 5. — P. 1 — 26.
- Mata N.L., Moghrabi W. N" Lee J.S., Bui T.V. Radu R.A. Horwitz J, Travis G.H. Rpe65 is a retinyl ester binding protein that presents insoluble substrate to the isomerase in retinal pigment epithelial cells H J, Biol. Chem. -2004. Vol, 279,-P. 635−643.
- Mathew C. C, The isolation of high molecular weight cucaryotic DNA, Methods in Molecular Biology Humana Press. 1984. 2,31 '34.
- Maubaret C., Hamel C. Genetics of retinitis pigmentosa: metabolic classification and phenotype/genotype correlations it J. Fr. Ophtalmol. 2005.1. Vol. 28. № 2,-P. 71 -92.
- McBee J. K" Palczewski K. Baehr W, Pepperberg D. R, Confronting complexity: the interlink of phototransduction and retinoid metabolism in the vertebrate retina U Prog. Retin. Eye Res. 2001. — Vol 20, — P. 469 — 529.
- McGee Sanftner L.H., Abel H" Hauswirth WW,. Flannery J.G. Glial cell line derived neurotrophic factor delays photoreceptor degeneration in atransgenic rat model of retinitis pigmentosa U Mol. Ther, 2001, — Vol. 4. — P. 622 — 629.
- McLaughlin M. E, Sandberg M.A., Berson EX., Dryja T.P. Recessive mutations in the gene encoding die beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa // Nat. Genet 1993. — Vol. 4. — P. 130−134.
- Merin S. I nherited eye diseases. Векет. 1993 .-370p.
- Moisevev G" Chen Y" Takahashi Y., Wu B.X., Ma J. RPE65 is the isomerohydrolase in the retinoid visual cycle H Proc, Nat, Acad, Sci, 2005. -Vol. 102,-P. 12 413- 12 418.
- Morimura H., Fishman G. A,. Grover SA" Fulton A, B. t Berson E.L., Dryja T.P. Mutations in the RPE65 gene in patients with autosomal recessiveretinitis pigmentosa or Leber congenital amaurosis // Proc. Nat. Acad. Sci, -1998. Vol. 95. — P- 3088 — 3093,
- Municr A., Gunning Т., Kenny D" OKeefe M. Causes of blindness in die adult population of die Republic of Ireland U Br. J, Ophthalmol. 1998. -Vol, 82,-P. 630−633.
- Nakamuehi V., Nakamura M-, Fujii S, Yamamoto M., Okubo K, Oguchi disease with sectoral retinitis pigmentosa harboring adenine deletion at position 1147 in the arrestin gene И Am. J. Ophthalmol, 1998. — Vol. 125. -P.249−251.
- Nakayawa M., Wad a Y., Tamai M. Arrestin gene mutations in autosomal recessive retinitis pigmentosa // Arch. Ophthalmol. 1998. — Vol. 116. — P. 498−501,
- Nathans J. Hogness D S, Isolation and nucleotide sequence of the gene encoding human rhodopsin, U Proc, Nat. Acad, Sci 1984. — Vol, 81. — P. 4851−4855.
- Orita M., Iwahana H., Kanazawa H., Sekya T, Detection of polymorphism of human DNA by gel electrophoresis as single cell conformation polymorphism U Proc. Natl. Acad. Sci, USA. 1989. — Vol. 86. -P. 2766−2770.
- Palczewski K-, Buczylko J, Kaplan M. W. et al, Mechanism of rhodopsin kinase activation //J, Biol. Chem, 1991. — Vol. 226. — P. 12 949 — 12 955,
- Palczewski K., Kumasaka Т., Hon Т. Bchnke C, A, t Motoshima H" Fox B.A. Le Trong L. Teller D. C" Okada Т. Stenkamp R.E. Yamamoto M, Miyano M. Crystal structure of rhodopsin: a G protein-coupled receptor it Science 2000, — Vol. 289, — P. 739 — 745.
- Palczewski К, McDowell J.H., Hargrave PA- Purification and characterization of rhodopsin kinase H J, Biol. Chcm, 1988. — Vol. 263. — P. 14 067 -14 073,
- Paskowitz D.M., LaVail M. M,. Duncan IX. Light and inherited retinal degeneration H Br, J. Ophthalmol. 2006. — Vol. 90, № 8. — P. 1060 — 1066.
- Perrault L, Hanein S., Gerber S. Barbct F" Ducnxj D, Dollfus H., Hamel C" Dufier J.L., Munnich A^ Kaplan J., Rom J. M, Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis // Am. J. Hum. Genet, 2004, — Vol, 75. — P, 639 — 646,
- Perrault I., Rozct J.M., Gerber S., Kelsell R.E., Souicd E, Cabot A" Hunt D.M., Munnich A., Kaplan J, A retGC-l mutation in autosomal dominant cone-rod dystrophy // Am J, Hum. Genet, 1998. — Vol. 63. — P. 651 -654,
- Phelan J.K., Bok D A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes // Mol. Vis. 2000. — Vol. 6. — P. 116 -124.
- Portera-Cailliau C., Sung C.H., Nathans J., Alder R. Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosa it Proc, Natl Acad. Sci, USA- 1994. Vol. 91. — P. 974 -978.
- Pugh E.N., Duda Т., Sitaramyya A., Shamia R.K. Photoreceptor guanylaie cyclases: A review. И Biosci. Rep, Reports 1997. — Vol. 17. -P 429 — 473.
- Pugh E, N. Lamb T. D, Phototransduction in Vertebrate rods and Cones: molecular mechanisms оГ Amplification, Recovery and Light Adaptation U Handbook of Biological Physics. Elsevier Science. 2000. 255p,
- R, A. Pagon, S. P. ftaigcr Retinitis Pigmentosa // Proc, Natl Acad. Sci. USA 2005. — Vol, 9.-P N4−128.
- Rajan R.S. and Kopito R.R. Suppression of Wild-type Rhodopsin Maturation by Mutants Linked to Autosomal Dominant Retinitis Pigmentosa // Invest. Ophthalmol. Vis. Sci 2005. — Vol. 28- P 1284 — 1291
- Redmond T M" Poliakov E., Yu S. Tsai J.Y., Lu Z. Gentleman S. Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolasc in the visual cycle // Proc, Natl, Acad. Sci, USA- 2005. -Vol. 102. № 38. P 13 658 — 13 663.
- Redmond T, M., Yu S. Lee E. Bok D. Hamasaki D., Chen N., Goletz P., Ma J.X., Crouch R.K., Pfeifcr K. Rpc65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle П Nature Genet. 1998, — Vol, 20. — P, 344−351.
- Remc C.E. Grimm С., Ha fez i F., Marti A., Wenzel A. Apoptotic cell death in retinal degenerations // Proc. Natl. Acad, Sci, USA 2000. — Vol, 97. -P. 7154−7159,
- Richard S. Saliba R.S., Munro P. M, Luthert P.J., Cheetham M.E. The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation И Journal of Cell Science- 2002, Vol, 115. — P. 2907 — 2918.
- S3, Rivolla С., Sharon D., DeAngetis M.M., Dryja TJJ. Retinitis pigmentosa and allied diseases- numerous diseases, genes, and inheritance patterns // Hum, Mot. GeneL -2002. Vol. 11.-P. 1219- 1227,
- Rohier В., Goletz P., Znoiko S-, Ablonczy Z., Ma J., Redmond Т. M" Crouch R. K. Correlation of regenerable opsin widi rod ERG signal in Rpe65 -/- mice during development and aging ft Invest, Ophthal- Vis, Sci, 2003. -Vol. 44.-P. 310−619 315.
- Sachs K" Maretzki D" Meyer C, K" Hofmann K.P. Diffusible Ligand AlL/ram-retinal Activates Opsin via a Palmitoylation-dcpcndcnt Mechanism ft Proc. Nat. Acad. Sci. Usa. 2000. — Vol. 275. № 9. — P. 6189 — 6194,
- Samuel G., jacobson K., Roderick R., Mclnnes C. Blinded by the tight It Nat. Genet, 2002, — Vol 32, № 2. — P. 254 — 260,
- Sandberg M.A., Weigcl-DiFranco C. Rosner В., Berson E.L. The relationship between visual field size and electroretinogram amplitude in retinitis pigmentosa // Inves. t Ophthalmol. VLs Sci. 1996. — Vol. 37, — P. 1693−1698.
- Seuchter. S.A. HGDBMS: A human genetic database management system / SA. Seuehter. M i l. Skolnick //CompuL Biomed. Res. 1988. — Vol. 21, ЛЬ 5.-P. 478−487.
- Shichida Y., Itai H, Visual pigment: G-protcin-couplcd receptor for light signals U Cell, and Mol. Life Sci. 1998. — Vol. 54, — P. 1299 — 1315.
- Simovich MJ., Miller В., Ezzeldin H., Kirkland B.T., McLeod G" Fulmer C. Nathans J" Jacobson S.G., Pittler SJ. Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis H Hum, Mutat. -2001, -Vol. 18. № 2.-P 164- 172.
- Strauss O, The Retinal Pigment Epithelium in Visual Function // Physiol. Rev. -2005. № 85. — C.845 — 881
- Takahashi Y., Chen Y" Moiseyev G., Ma J, Two Point Mutations of RPE65 from Patients with Retinal Dystrophies Decrease the Stability of 179
- RPE65 Protein and Abolish Its Isomerohydrolase Activity // J. Biol- Chem. -2006. «Vol. 281, № 31. P. 21 820- 21 826.
- Jam B. M, Moriiz O.L., Papermaster D.S. The С Terminus of Peripherin/rds Participates in Rod Outer Segment Targeting and Alignment of Disk Incisures it Molecular Biology of the Cell 2004. — Vol. 15, — P. 2027 -2037.
- Travis G.H., Brennan M B. Danielson P.E. Kozak C.A., Sulciiffe J. G, Identification of* a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds) U Nature 1989, — Vol. 338.1. P. 701 73,
- Van Lilh-Vcrhoeven J, C. Cremers P.P. Van den Helm. B, et al. Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea U Mol. Vis. -2003. -Vol.9.-P. 138- 143.
- Vinchurkar M.S., Salhye S, M., Dikshit M. Retinitis pigmentosa genetic: a study in Indian population H Indian. J, Ophthalmol. 1996, — Vol. 44. № 2. — P. 77 — 82.
- Wertelecki W. Л jjenetic services microcomputer data base. Pari J. Design and implementation / W, Wertelecki, D.W. Supemeau // Alabama J. Med. Sci. 1987. — Vol. 24. — P. 281 — 289 a.
- Wcrtclecki, W, A genetic services microcomputer data base. Part II. Results and trends f W. Wertelecki, D.W. Supemeau // Alabama J. Med. Sci. -1987. Vol. 24. — P 397- 399 b.
- Wieland T» Chen C.K., Simon M L The retinal specific protein RGS-r competes with the gamma subunit of cGMP phosphodiesterase for the alpha subunit of transducin and facilitates signal termination // J. Biol. Chem, 1997. -Vol. 272.-P. 8853−8856.
- Wilson J, H" Wensel T. G, The nature of dominant mutations of rhodopsin and implications for gene therapy // Mol. Neurobiol. 2003. — Vol. 28. N*2. -P. 149- 158.
- Wing H.D. Prevalence and mode inheritance of major genetic eye diseases in China H J. Med, Genet. 1987, — Vol. 24, .№ 10. — P. 584 — 588.181
- Wright M.D., Tomlinson M. G, The ins and outs of the transmembrane 4 superfamily // Immunol. Today 1994. — Vol. 15. — P. 588−594,
- Xuc L. Gollapalli DR., Mailt P-, Jahng W.J., Rando R, R, A palmitoylation switch mechanism in the regulation of die visual cycle // Cell -2004. — Vol. 117.-P. 761 -771.
- Yamamoto S., Sippel K.C. Bcrson EX. Dryja T.P. Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness // NaL Genet, 1997. — Vol. 15. — P. 175−178.
- Yatnashita Г., Terakka A., Shichida Y. Distinct roles of the second and third cytoplasmic loops of bovine rhodopsin in G protein activation // J. Biol. Chcm. 2000. — Vol. 275, — P. 34 272 — 35 279.
- Yoshii M., Murakami A. Akco K., Nakamura A., Shimoyama M., Ikeda Y., Kikuchi Y" Okisaka S., Yanashima K" Oguchi Y. Visual function and gene analysis in a family with Oguchi’s disease// Ophthalmic- Res. 1998. -30. — P. 394−401.
- Yount E.A. Applications of the MEGADATS database system in medical genetics / E.A. Yount, P.M. Conneally, J, M, Gcrsting // Am. J. Med. Genet. -(987.-Vol.26.-P.331 -335.
- Zhang X.L., Liu M., Meng X.H. el al, Mutational analysis of the rhodopsin gene in Chinese ADRP families by conformation sensitive get electrophoresis // Life Sci 2006. — Vot. 78, № 13. — P. 1494 — 1498,