Qhov sib txawv tseem ceeb ntawm haploinsufficiency thiab qhov tsis zoo yog qhov haploinsufficiency cuam tshuam nrog kev poob haujlwm hauv ib daim qauv ntawm ob qho alleles thaum tseem ceeb-tsis zoo cuam tshuam nrog qhov nce ntawm kev hloov pauv.
Haploinsufficiency thiab dominant-negative yog ob hom kev hloov pauv tseem ceeb. Haploinsufficiency yog vim qhov poob ntawm kev ua haujlwm thaum tseem ceeb-tsis zoo yog vim qhov nce ntawm kev ua haujlwm. Hauv haploinsufficiency, allele ua haujlwm tsis txaus los tsim cov protein ntau txaus. Li no, ib qho txawv txav phenotype raug tsim. Hauv qhov tseem ceeb-tsis zoo, kev hloov pauv ntawm cov protein ua haujlwm tshwm sim vim kev hloov pauv. Cov protein uas tshwm sim ua rau muaj kev tsim cov dimmers lossis multimers ua rau muaj txiaj ntsig zoo-tsis zoo.
Haploinsufficiency yog dab tsi?
Haploinsufficiency yog qhov tsim ntawm qhov txawv txav vim yog qhov tsis ua haujlwm ntawm ib qho allele tawm ntawm ib khub ntawm alleles ntawm cov noob. Qhov no feem ntau yog qhov tshwm sim txawv txawv. Qhov kev hloov pauv no yog hom kev hloov pauv tseem ceeb. Yog li ntawd, lub nonfunctional allele ntawm ib tug haploins txaus gene yog dominant. Haploinsufficiency tshwm sim los ntawm txhua qhov kev ua haujlwm uas ua rau poob haujlwm. Cov txheej txheem no tuaj yeem raug tshem tawm, chromosomal translocation, truncation tshwm sim los ntawm qhov tsis muaj tseeb lossis hloov pauv hloov pauv, hloov pauv amino acid, thiab lwm yam.
Daim duab 01: Poob Kev Ua Haujlwm Hloov Kho
Gene haploidy muaj lub luag haujlwm hauv cov phenotypes uas txawv txav. Kev ua haujlwm allele ntawm cov noob haploins txaus tsis txaus rau kev qhia ntawm cov noob ua haujlwm tiag tiag. Yog li, qhov poob ntawm kev ua haujlwm ntawm ib qho allele lossis 50% txo qis ntawm cov protein ntau dhau los ua cov kab mob thiab ua rau muaj kab mob. Alagylle syndrome, tricho-rhino-phalangeal syndrome thiab ntau yam exostosis yog ob peb kab mob tshwm sim vim haploinsufficiency.
Dominant Negative yog dab tsi?
Dominant-negative yog ib hom kev nce ntawm kev hloov pauv. Yog li, tus kab mob no tsis tshwm sim vim tsis muaj protein ntau ua haujlwm. Nws tshwm sim vim muaj kev hloov pauv hauv cov haujlwm protein. Nws ua antagonistically nyob rau hauv cov tsiaj qus-hom allele los ntawm chemically interacting nrog cov noob caj noob ces thiab cuam tshuam lub cev muaj nuj nqi. Hauv qhov kev hloov pauv no, ib qho mutant receptor cuam tshuam nrog kev ua haujlwm ntawm cov tsiaj qus-hom version ntawm receptor. Hauv cov lus yooj yooj yim, hauv kev hloov pauv tsis zoo, cov mutant polypeptide txo cov kev ua ntawm co-expressed wild-type protein. Raws li qhov tshwm sim, qhov kawg ntawm cov protein yog cov khoom hloov pauv. Tsis tas li ntawd, hom kev hloov pauv no tseem hu ua antimorphs. Tsis tas li ntawd, cov kev hloov pauv no ua rau muaj ntau yam teeb meem hauv tib neeg nrog rau cov kab mob pob txha nkig.
Dab tsi yog qhov zoo sib xws ntawm Haploinsufficiency thiab Dominant Negative?
- Ob leeg haploinsufficiency thiab dominant negative yog dominant mutations.
- Lawv nquag koom nrog kev txhim kho tsis zoo.
Qhov txawv ntawm Haploinsufficiency thiab Dominant Negative yog dab tsi?
Haploinsufficiency tshwm sim thaum tsuas yog ib daim qauv ntawm cov noob ua haujlwm thaum muaj qhov tsis zoo tshwm sim thaum cov mutant polypeptide txo cov kev ua ntawm cov co-expressed wild type protein. Yog li, qhov no yog qhov sib txawv tseem ceeb ntawm haploinsufficiency thiab tseem ceeb tsis zoo. Tsis tas li ntawd, haploinsufficiency yog ib hom kev poob ntawm kev ua haujlwm hloov pauv thaum tseem ceeb tsis zoo yog hom kev nce ntawm kev ua haujlwm hloov pauv.
Hauv qab no yog cov ntsiab lus ntawm qhov sib txawv ntawm haploinsufficiency thiab dominant negative hauv daim ntawv.
Summary – Haploinsufficiency vs Dominant Negative
Nyob rau hauv haploinsufficiency, tag nrho cov khoom muaj protein ntau tsis txaus los tsim cov qauv phenotype. Nyob rau hauv cov noob haploins txaus, ib daim qauv ntawm cov noob ploj lawm. Yog li, nws tsis tsim cov protein uas xav tau. Yog li daim ntawv luam ua haujlwm tsis txaus los tsim cov qauv phenotype. Hauv qhov tseem ceeb tsis zoo, cov khoom lag luam noob caj noob ces cuam tshuam rau cov khoom qub, hom tsiaj qus hauv tib lub cell. Mutant polypeptides cuam tshuam cov kev ua ntawm cov tsiaj qus hom khoom. Haploinsufficiency yog ib hom kev poob ntawm kev hloov pauv hloov thaum tseem ceeb tsis zoo yog hom kev nce ntawm kev hloov pauv. Yog li, qhov no yog cov ntsiab lus ntawm qhov sib txawv ntawm haploinsufficiency thiab dominant negative.
