Mutations in spliceosomal proteins and retina degeneration

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378050%3A_____%2F17%3A00486950" target="_blank" >RIV/68378050:_____/17:00486950 - isvavai.cz</a>

Result on the web

<a href="http://dx.doi.org/10.1080/15476286.2016.1191735" target="_blank" >http://dx.doi.org/10.1080/15476286.2016.1191735</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1080/15476286.2016.1191735" target="_blank" >10.1080/15476286.2016.1191735</a>

Result language

angličtina

Original language name

Mutations in spliceosomal proteins and retina degeneration

Original language description

A majority of human genes contain non-coding intervening sequences introns that must be precisely excised from the pre-mRNA molecule. This event requires the coordinated action of five major small nuclear ribonucleoprotein particles (snRNPs) along with additional non-snRNP splicing proteins. Introns must be removed with nucleotidal precision, since even a single nucleotide mistake would result in a reading frame shift and production of a non-functional protein. Numerous human inherited diseases are caused by mutations that affect splicing, including mutations in proteins which are directly involved in splicing catalysis. One of the most common hereditary diseases associated with mutations in core splicing proteins is retinitis pigmentosa (RP). So far, mutations in more than 70genes have been connected to RP. While the majority of mutated genes are expressed specifically in the retina, eight target genes encode for ubiquitous core snRNP proteins (Prpf3, Prpf4, Prpf6, Prpf8, Prpf31, and SNRNP200/Brr2) and splicing factors (RP9 and DHX38). Why mutations in spliceosomal proteins, which are essential in nearly every cell in the body, causes a disease that displays such a tissue-specific phenotype is currently a mystery. In this review, we recapitulate snRNP functions, summarize the missense mutations which are found in spliceosomal proteins as well as their impact on protein functions and discuss specific models which may explain why the retina is sensitive to these mutations.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

10603 - Genetics and heredity (medical genetics to be 3)

Project

<a href="/en/project/LO1419" target="_blank" >LO1419: Biomodels for Health - Center for model organisms</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2017

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

RNA biology

ISSN

1547-6286

e-ISSN

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Volume of the periodical

14

Issue of the periodical within the volume

5

Country of publishing house

US - UNITED STATES

Number of pages

9

Pages from-to

544-552

UT code for WoS article

000402095400009

EID of the result in the Scopus database

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