
raap 53

ryap53 (dheenini doubleudy40-encoding rna antisense nundi "pii53" anie kooda pilustaaru) anedi cancer abhivruddhilo chikkukunna janyuvu. eee janyuvu yokka dwandwa paatranu vivarinchadaaniki 2009loe eee paerunu roopondinchaaru, idhi "p53" kaniti anichiveta yantraanni niyantrinche antisense rna mariyu dna marammattu, telomir podugu mariyu anhu kanajaalam kajal baadeela nirvahanalo palgone protein rendintinee encoding chestundi (chitram 1).
janyuvu.
ryap53" janyuvu chromosome 17p13.1 loe sthaanikeekarinchabadindi mariyu kaneesam moodu janyu utpattulanu utpatti chese moodu pratyaamnaaya prarambha exanlatho (1α, 1β mariyu 1γ) sahaa 13 exanlanu kaligi untundi. ryap53" janyuvu thala-nundi-thala dhoranilo "p53" kaniti anichivese janyuvunu paakshikamgaa ativyaapti chestundi.
function.
p53" yokka modati exannu ativyaapti chese "ryap53" yokka transcripts (ryap53α transcripts anie pilustaaru) p53 mrna mariyu protein sthaayilanu niyantristaayi (chitram 1). raap 53gm transcripts "pii53" yokka modati intraannu ativyaapti chestaayi mariyu eee intron lopala sthaanikeekarinchabadina gatamlo gurtinchina transcript hechpi53int1kii antisensga untaayi. ayithe, "raap 53gm" yokka paniteeru antuchikkanidigaa undhi.
ryap53" janyuvu kooda "ryap53β" (alias "ryap53" ledhaa "wdr79" ledhaa "tcab1") anie piluvabade proteinnu encode chestundi, idhi doubleudy40 protein kutumbaaniki chendinadi (chitram 1). ryap53β protein-protein mariyu protein-rna paraspara charyalanu sulabhataram chestundi mariyu nuclear organels kajal baadeelaku, telomeerlaku mariyu dna double-strand viraamaalaku kaarakaalanu nirdesistundi. ryap53β sahayamtho kajal baadeelaku sthaanikeekarinchabadina karakalalo smn protein, chinna kajal boddy-nirdishta scarnass mariyu enjaim telomerase unnaayi. ryap53β ubiquitin ligase rnf8 nundi DNA double-strand viramalanu kooda lakshyamgaa chesukuntundi (chitram 2).
cellular saitlanu saricheyadaaniki sthaanikeekarinche kaarakaalato paatu, raap 53β kajal baadeela nirmaana samagratanu nirvahistundi mariyu raap 53β lekunda eee organellu kuulipoetaayi mariyu tirigi erpadavu (chitram 2).
domainlu.
raap 53β protein atyanta parinaamatmakamgaa samrakshinchabadutundi, sakasherukaalu, akasherukaalu, mokkalu mariyu eest laloe homolaglu (daani doubleudy 40 punaraavruttulaku parimitam) untaayi. 
raap53βloe prolin-ritch enn-terminus, central doubleudy40 domine mariyu glycine-ritch sii-terminus (chitram 3) untaayi. raap 53β yokka Wd40 domine aneka rakaala anuvula madhya bahula paraspara charyalaku paranjaga panichestundi.
clinical praamukhyata.
diaskeratosis puttukatho vachhe vyaadhi.
ryap53β loe germline utparivartanalu diaskeratosis congenita anie piluvabade rugmataku daariteestaayi, idhi emuka majja vaiphalyam, akaala vruddhaapyam, cancerku siddhata mariyu noti leukoplakia, asaadhaarana charma varnadravyam mariyu goru dystrophytho sahaa shleshma lakshanaala trayam kaligi untundi. ryap53β looni utparivartanalu autosomal recessive paddhatiloo vaarasatvamgaa labhistaayi, daani doubleudy40 domine yokka atyanta samrakshinchabadina praantaalalo nivasistaayi mariyu eee vyaadhi yokka marinta teevramaina roopaaniki daariteestaayi. 
eee utparivartanalu raap 53β yokka anhu sthaayini taggistaayi, telomerasenu telomierlaku ravana cheyadaanni balaheenaparustaayi, tadanantaram eee rogulalo telomiyarlanu kramamga tagginchadaaniki daariteestaayi, raap 53β yokka saraina madataku chaperonin cct/tric keelakam mariyu diaskeratosis congenita loe eee madata balaheenapadutundi.
vennemuka kandaraala ksheenata.
smn yokka lopabhuishta ryap53β-madhyavartitva akrama ravana vennemuka kandaraala ksheenata (rakam I ledhaa werdnig-hafman vyaadhi) yokka atyanta teevramaina roopam, vennupamu puurva kommu α-motaru neuronla pragatiseela ksheenata mariyu sumaruga 1:6000 sajeeva jananaala sanghatanatho shishu maranaaniki pradhana janyu kaaranam. smn1 janyuvulooni utparivartanalu vennemuka kandaraala ksheenata (sma) kii antarleena kaaranam.
cancer.
vividha muulaala vividha cancer kana shrenulalo ryap53β atigaa vyakteekarinchabadutundi mariyu atuvanti atigaa vyakteekarana eee protein ancogenic lakshanaalanu kaligi undani soochinche carcinogenic parivartananu prothsahistundi. praathamika nasopharyngeal carcinoma, annavahika polusula kana cancer mariyu mala cancerlalo ryap53β atigaa vyaktamavutundi. antekakunda, cancer kanaalalo ryap 53β yokka nock down elukalalo antukattabadinappudu erpadina kanitula parimaanaanni taggistundi mariyu cancer kanaalalo mitochondrial-aadhaarita apoptosisnu prerepistundi.
dheeniki viruddhamgaa, ryap53β yokka rendu yugmavikalpalalo utparivartanalu nishkriyam cheyadam diaskeratosis kanjenitaaku kaaranamavutundi, idhi eee protein ankogene kakunda kanitini anichivesedigaa panichestundani suuchistumdi. nuclear ryap 53β kolpovadam anedi thala mariyu meda cancer unna rogulalo radiotherapyki taggina manugada mariyu nirodhakathatho kooda sambandham kaligi untundi. aneka cellular prakriyalalo daani sanklishta paatralatho, ryap53β konni paristhitulalo kaniti anichivetagaa mariyu itarulalo ankojinga panichestundi.
ryap 53 janyuvulooni single nucleotide polymorphisms (snps) rommu mariyu andaasaya cancer pramaadaanni penchutaayi. eee snapslo okati benjeenku guraina kaarmikulalo lopabhuishta dna marammattu mariyu hematotoxicitytho kooda anubandhistundi.
aavishkarana.
2006loe karolinska institute vadda marian farnebo (modati paeru hummersand) dwara ryap53 janyuvunu modatisaarigaa gurtinchaaru. 2009loe ryap53β (alias tcob1, wdr79 mariyu ryap53) proteinnu steven artandy (stanford vishwavidyaalayam), john steatz (yael vishwavidyaalayam) mariyu marian farnebo (karolinska institute) swatantramgaa varninchaaru.