
tii. bii. ex 22

manushyaril "tbx22" jeane encode cheiyunna oru proteinaan t-boxes transcription factor tbx22.
tii-boxes enna pothuvaaya dna-binding domaine pankidunna phylogeneticalaayi samrakshikkappetta proteinukalude kudumbatthile amgamaanu tbx 22. tii-boxes jeenukal vikasana prakriyakalude niyanthranatthil ulppedunna transcription gadakangale encode cheiyunnu. eee jeenil varunna mutationukal paarambaryamaayi labhicha ex-linked desorder, clift annaakk, anchyloglosia (naav-tye) ennivayumaayi bandhappettirikkunnu, ithu manushyante paletogenisisil pradhana punk vahikkunnuvennu vishwasikkappedunnu. ithu munbu ex chromosominte neelamulla kaiyilekku mapp cheythittundu, tii. bii. ex 22 jeenil mutationukalaanu eee syndromine kaaranamenn ippol theliyikkappettittund. chila janasamkhyayil tii. bii. ex. 22 mutationukal syndromic allatha villal annaakkinum kaaranamaakunnu.
tii. bii. ex. 22ll 8.7 kilobase genomic dii. enn. eiii. adangiyirikkunnu. tii. bii. ex. 22 emm. aarr. eiii. eiii. kku 2099 bays jody neelamundu, koodaathe athinte enn. echu. 2-terminal mekhalayil tii-domaine adangiya 400-amino-assid proteine encode cheiyunnu, ithu ariyappedunna mattu tii-domainukalumaayi thaarathamyappeduthumbol 20 amino-aasidukal nashtappedunnathinte savisheshathayaanu.
pravartthanam.
ekadesham 200 amino aasidukalude samrakshitha dna-binding motif encode cheiyunna oru pradesham adangiyirikkunna transcriptional regulettarmaarude oru kudumbatthile amgangalaanu tii-boxes jeenukal tii-domaine. eee jeenukale avayude ulppannangalkkum mouse brachury (allengil tii) protein idayil nilanilkkunna homology adisthaanathilaanu orumichu tharamthirikkunnath. manushyarilum elikalilum, niravadhi tii-domaine adangiya jeenukal ithuvare thirichariyukayum genome udaneelam mapp cheyyukayum cheythittundu. kasherukkaludeyum akasherukkaludeyum vikasana samayat eee jeenukalude speshiyo-temporal expression karsanamaayi niyanthrikkappedunnu.
mousinteyo senopassinteo bhroonathinte mesoderm nirvvachanathil niravadhi tii-boxes jeenukal ulppettittundennu pravarthanaparamaaya padanangal theliyichittundu. elikalil, brachury jeane aadyakaala mesoderm koshangalil prakadippikkukayum athinte aavishkaaram notocordil parimithappedutthukayum cheiyunnu. brachury protein athinte tii-domaine thiricharinja 20-nucleotide bhaagikamaayi palyndromic sreniyumaayi oru dimeraayi bandhippikkunnu. kooduthal pothuve, sariyaaya morphogenesis, oorganjanisis ennivaykku tii-boxes jeenukal nirnaayakamaanennu theliyikkappettittund. niravadhi tii-boxes jeenukalude asaadhaaranamaaya aavishkaaram elikaliloo drosophilayilo seabraficialo vikasana vaikalyangalkk kaaranamaakumenn theliyikkappettittund.
klinikkal praadhaanyam.
manushyaril, rund tii-boxes jeenukal paarambarya vaikalyangalil earppedunnu tii. bii. ex. 5 leeii mutationukal holt-ooram syndrome undaakkunnu, athesamayam tii. bii. ex. 3 leeii mutationukal alnar-mammery syndrome undaakkunnu.
tbx 22 leeii mutationukal ex-linked clift annaakkinum anchyloglosiaykkum kaaranamaakunnu. sakthamaaya ex linked mendelian anantharaavakaasham prakadippikkunna cheria kudumbangalil sii. pii. ex vivarichittundu. dvitheeya annaakkinte poornnamaaya pilarpp, submucus clift allengil befeed yuvula muthal uyarnna kamaanamulla annaakk vareyulla vyathiyanangal kaanikkunna purushanmareyaanu clift phenotype pradhaanamaayum baadhikkunnath. rogabadhitharaaya rogikalilum vaahakaraaya sthreekalilum anchyloglosia pathivayi kaanapedunnu, ithu sii. pii. eksinte upayogapradamaaya soochakamaanennu theliyikkappettittund. manushyarilum elikalilum inn sittu sankaravalkkaranam upayogikkunna thaalkkaalikavum speshyal padanangalum kaanikkunnath paletogenesis samayat praadhamikamaayi paalattal shelfukalilum naavilum tbx22/tbx22 prakadippikkappedunnu, ithu paalattal, naav vikasanathil tbx22-nte oru prathyeka punk soochippikkunnu. nannayi nirvachikkapetta x linked anantharaavakaashamulla kudumbangalkk purame, vamshavali valupavum koodaathe/allengil kudumbacharitravum anantharaavakaasha reethi pravachikkaan kazhiyaathavidham parimithamaaya niravadhi kudumbangalil tbx22 mutationukal thiricharinjittundu. eee sandarbhangalil, ancyloglosiayudeyum pilarnna annakkinteyum saannidhyathe adisthaanamaakkiyullathaayinu parisodhana.
brazilian, vadakke american koottangalil clift annaakkinte vyaapanathin tbx 22 ganyamaaya sambhavana nalkunnuvennu theliyikkappettittund. innuvare, sii. pii., koodaathe/allengil anchyloglosia ulla rogikalil 10 vyathyastha tbx 22 mutationukal report cheythittundu. cheria illaathaakkalukal/ulppeduthalukal, asambandhangal, splies saitt, frameshift, missense mattangal enniva ithil ulppedunnu.

