Prediction of disease-related mutations affecting protein localization


Näytä suppeat kuvailutiedot Laurila, Kirsti - Vihinen, Mauno - 2012-06-17T20:16:41Z 2012-06-12 20:50:38 - 2012-06-17T20:16:41Z 2009 -
dc.identifier.issn 1471-2164 -
dc.description BioMed Central Open access -
dc.description.abstract Background Eukaryotic cells contain numerous compartments, which have different protein constituents. Proteins are typically directed to compartments by short peptide sequences that act as targeting signals. Translocation to the proper compartment allows a protein to form the necessary interactions with its partners and take part in biological networks such as signalling and metabolic pathways. If a protein is not transported to the correct intracellular compartment either the reaction performed or information carried by the protein does not reach the proper site, causing either inactivation of central reactions or misregulation of signalling cascades, or the mislocalized active protein has harmful effects by acting in the wrong place. Results Numerous methods have been developed to predict protein subcellular localization with quite high accuracy. We applied bioinformatics methods to investigate the effects of known disease-related mutations on protein targeting and localization by analyzing over 22,000 missense mutations in more than 1,500 proteins with two complementary prediction approaches. Several hundred putative localization affecting mutations were identified and investigated statistically. Conclusion Although alterations to localization signals are rare, these effects should be taken into account when analyzing the consequences of disease-related mutations. -
dc.language.iso en -
dc.title Prediction of disease-related mutations affecting protein localization -
dc.type fi=Artikkeli aikakauslehdessä | en=Journal article| -
dc.identifier.urn urn:nbn:uta-3-555 -
dc.identifier.doi 10.1186/1471-2164-10-122 -
dc.type.version fi=Kustantajan versio | en=Publisher's version| -
dc.subject.okm fi=Lääketieteen bioteknologia | en=Medical biotechnology| -
dc.journal.title BMC Genomics -
dc.journal.volume 10 -
dc.journal.number 122 -
dc.journal.volumepagerange 1-14 -
dc.oldstats 56 -

Viite kuuluu kokoelmiin:

Näytä suppeat kuvailutiedot