Ìåíþ
Ãëàâíàÿ
Ñëó÷àéíàÿ ñòàòüÿ
Íàñòðîéêè
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Áåëîê êîëáî÷êî-ïàëî÷êîâîãî ãîìåîáîêñà[1] — áåëîê, ÷òî ó ÷åëîâåêà êîäèðóåòñÿ ãåíîì CRX.[2][3][4]
Áåëîê, êîäèðóåìûé ýòèì ãåíîì ÿâëÿåòñÿ ñïåöèôè÷åñêèì ôàêòîðîì òðàíñêðèïöèè ôîòîðåöåïòîðîâ, êîòîðûé èãðàåò âàæíóþ ðîëü â äèôôåðåíöèðîâàíèè ôîòîðåöåïòîðíûõ êëåòîê. Ýòî ãîìåîäîìåííûé áåëîê íåîáõîäèì äëÿ ïîääåðæàíèÿ íîðìàëüíîãî ôóíêöèîíèðîâàíèÿ êîëáî÷åê è ïàëî÷åê. Ìóòàöèè â ýòîì ãåíå ñâÿçàíû ñ äåãåíåðàöèåé ôîòîðåöåïòîðîâ, âðîæä¸ííûì àìàâðîçîì Ëåáåðà òèïà III è àóòîñîìíî-äîìèíàíòíîé äèñòðîôèåé òèïà 2 ïàëî÷åê è êîëáî÷åê. Íåñêîëüêî âàðèàíòîâ àëüòåðíàòèâíîãî ñïëàéñèíãà òðàíñêðèïòîâ ýòîãî ãåíà áûëè îïèñàíû, íî ïîëíàÿ ïðèðîäà íåêîòîðûõ âàðèàíòîâ íå áûëà îïðåäåëåíà .[4]
Ïðèìå÷àíèÿ
- Ãîìåîáîêñ — ñïåöèôè÷åñêàÿ ïîñëåäîâàòåëüíîñòü ÄÍÊ
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- 1 2 Entrez Gene: CRX cone-rod homeobox . Àðõèâèðîâàíî 7 ìàðòà 2010 ãîäà.
Ëèòåðàòóðà- Paunescu K., Preising M.N., Janke B., et al. Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame. (àíãë.) // Ophthalmology : journal. — 2007. — Vol. 114, no. 7. — P. 1348—1357.e1. — doi:10.1016/j.ophtha.2006.10.034. — PMID 17320181.
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- Yanagi Y., Masuhiro Y., Mori M., et al. p300/CBP acts as a coactivator of the cone-rod homeobox transcription factor. (àíãë.) // Biochemical and Biophysical Research Communications : journal. — 2000. — Vol. 269, no. 2. — P. 410—414. — doi:10.1006/bbrc.2000.2304. — PMID 10708567.
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- Chen S., Wang Q.L., Xu S., et al. Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy. (àíãë.) // Human Molecular Genetics[àíãë.] : journal. — Oxford University Press, 2003. — Vol. 11, no. 8. — P. 873—884. — doi:10.1093/hmg/11.8.873. — PMID 11971869.
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