“RP1”的意思、由来-开放百科全书

Function

Initially named for its response to in vivo retinal oxygen levels (designated ORP1 for 'oxygen-regulated protein-1'), this gene was subsequently linked to autosomal dominant retinitis pigmentosa and was renamed RP1 for 'retinitis pigmentosa 1'. The data suggest that mutations in this gene cause dominant RP, and that the encoded protein has an important but unknown role in photoreceptor biology.^[2]

References

1. ^{{cite journal |vauthors=Blanton SH, Heckenlively JR, Cottingham AW, Friedman J, Sadler LA, Wagner M, Friedman LH, Daiger SP | title = Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8 | journal = Genomics | volume = 11 | issue = 4 | pages = 857–69 |date=Mar 1992 | pmid = 1783394 | pmc = | doi =10.1016/0888-7543(91)90008-3 }}
2. ^¹{{cite web | title = Entrez Gene: RP1 retinitis pigmentosa 1 (autosomal dominant)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6101| accessdate = }}

Further reading

{{Cite journal | author=Juwana JP |title=EB/RP gene family encodes tubulin binding proteins |journal=Int. J. Cancer |volume=81 |issue= 2 |pages= 275–84 |year= 1999 |pmid= 10188731 |doi=10.1002/(SICI)1097-0215(19990412)81:2<275::AID-IJC18>3.0.CO;2-Z |name-list-format=vanc| author2=Henderikx P | author3=Mischo A | display-authors=3 | last4=Wadle | first4=Andreas | last5=Fadle | first5=Natalie | last6=Gerlach | first6=Klaus | last7=Arends | first7=Jan Willem | last8=Hoogenboom | first8=Hennie | last9=Pfreundschuh | first9=Michael }}

{{Cite journal | author=Pierce EA |title=Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa |journal=Nat. Genet. |volume=22 |issue= 3 |pages= 248–54 |year= 1999 |pmid= 10391211 |doi= 10.1038/10305 |name-list-format=vanc| author2=Quinn T | author3=Meehan T | display-authors=3 | last4=McGee | first4=Terri L. | last5=Berson | first5=Eliot L. | last6=Dryja | first6=Thaddeus P. }}

{{Cite journal | author=Sullivan LS |title=Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa |journal=Nat. Genet. |volume=22 |issue= 3 |pages= 255–9 |year= 1999 |pmid= 10391212 |doi= 10.1038/10314 | pmc=2582380 |name-list-format=vanc| author2=Heckenlively JR | author3=Bowne SJ | display-authors=3 | last4=Zuo | first4=Jian | last5=Hide | first5=Winston A. | last6=Gal | first6=Andreas | last7=Denton | first7=Michael | last8=Inglehearn | first8=Chris F. | last9=Blanton | first9=Susan H. }}

{{Cite journal | author=Guillonneau X |title=A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus |journal=Hum. Mol. Genet. |volume=8 |issue= 8 |pages= 1541–6 |year= 1999 |pmid= 10401003 |doi=10.1093/hmg/8.8.1541 |name-list-format=vanc| author2=Piriev NI | author3=Danciger M | display-authors=3 | last4=Kozak | first4=CA | last5=Cideciyan | first5=AV | last6=Jacobson | first6=SG | last7=Farber | first7=DB }}

{{Cite journal | author=Liu Q |title=Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors |journal=Invest. Ophthalmol. Vis. Sci. |volume=43 |issue= 1 |pages= 22–32 |year= 2002 |pmid= 11773008 |doi= | pmc=1963488 |name-list-format=vanc| author2=Zhou J | author3=Daiger SP | display-authors=3 | last4=Farber | first4=DB | last5=Heckenlively | first5=JR | last6=Smith | first6=JE | last7=Sullivan | first7=LS | last8=Zuo | first8=J | last9=Milam | first9=AH }}

{{Cite journal | author=Andersen JS |title=Directed proteomic analysis of the human nucleolus |journal=Curr. Biol. |volume=12 |issue= 1 |pages= 1–11 |year= 2002 |pmid= 11790298 |doi=10.1016/S0960-9822(01)00650-9 |name-list-format=vanc| author2=Lyon CE | author3=Fox AH | display-authors=3 | last4=Leung | first4=Anthony K.L. | last5=Lam | first5=Yun Wah | last6=Steen | first6=Hanno | last7=Mann | first7=Matthias | last8=Lamond | first8=Angus I. }}

{{Cite journal | author=Fujita Y |title=Hypertriglyceridemia associated with amino acid variation Asn985Tyr of the RP1 gene |journal=J. Hum. Genet. |volume=48 |issue= 6 |pages= 305–8 |year= 2004 |pmid= 12764676 |doi= 10.1007/s10038-003-0029-z |name-list-format=vanc| author2=Ezura Y | author3=Emi M | display-authors=3 | last4=Ono | first4=S | last5=Takada | first5=D | last6=Takahashi | first6=K | last7=Uemura | first7=K | last8=Iino | first8=Y | last9=Katayama | first9=Y }}

{{Cite journal | author=Schwartz SB |title=De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa |journal=Invest. Ophthalmol. Vis. Sci. |volume=44 |issue= 8 |pages= 3593–7 |year= 2003 |pmid= 12882812 |doi=10.1167/iovs.03-0155 |name-list-format=vanc| author2=Aleman TS | author3=Cideciyan AV | display-authors=3 | last4=Swaroop | first4=A | last5=Jacobson | first5=SG | last6=Stone | first6=EM }}

{{Cite journal | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |name-list-format=vanc| author2=Suzuki Y | author3=Nishikawa T | display-authors=3 | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki }}

{{Cite journal | author=Kawamura M |title=Novel 2336-2337delCT mutation in RP1 gene in a Japanese family with autosomal dominant retinitis pigmentosa |journal=Am. J. Ophthalmol. |volume=137 |issue= 6 |pages= 1137–9 |year= 2004 |pmid= 15183808 |doi= 10.1016/j.ajo.2003.12.037 |name-list-format=vanc| author2=Wada Y | author3=Noda Y | display-authors=3 | last4=Itabashi | first4=Toshitaka | last5=Ogawa | first5=Soh-Ichiro | last6=Sato | first6=Hajime | last7=Tanaka | first7=Kenji | last8=Ishibashi | first8=Tasturo | last9=Tamai | first9=Makoto }}

{{Cite journal | author=Khaliq S |title=Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa |journal=J. Med. Genet. |volume=42 |issue= 5 |pages= 436–8 |year= 2006 |pmid= 15863674 |doi= 10.1136/jmg.2004.024281 | pmc=1736063 |name-list-format=vanc| author2=Abid A | author3=Ismail M | display-authors=3 | last4=Hameed | first4=A | last5=Mohyuddin | first5=A | last6=Lall | first6=P | last7=Aziz | first7=A | last8=Anwar | first8=K | last9=Mehdi | first9=SQ }}

{{Cite journal | author=Riazuddin SA |title=Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families |journal=Invest. Ophthalmol. Vis. Sci. |volume=46 |issue= 7 |pages= 2264–70 |year= 2005 |pmid= 15980210 |doi= 10.1167/iovs.04-1280 |name-list-format=vanc| author2=Zulfiqar F | author3=Zhang Q | display-authors=3 | last4=Sergeev | first4=YV | last5=Qazi | first5=ZA | last6=Husnain | first6=T | last7=Caruso | first7=R | last8=Riazuddin | first8=S | last9=Sieving | first9=PA }}

{{Cite journal |vauthors=Roberts L, Bartmann L, Ramesar R, Greenberg J |title=Novel variants in the hotspot region of RP1 in South African patients with retinitis pigmentosa |journal=Mol. Vis. |volume=12 |issue= |pages= 177–83 |year= 2006 |pmid= 16568030 |doi= }}

{{Cite journal |vauthors=Roni V, Carpio R, Wissinger B |title=Mapping of transcription start sites of human retina expressed genes |journal=BMC Genomics |volume=8|pages= 42 |year= 2007 |pmid= 17286855 |doi= 10.1186/1471-2164-8-42 | pmc=1802077 }}

Function

References

Further reading

External links