Blog
About

0
views
0
recommends
+1 Recommend
1 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Developing a new method to predict the effect of the missense mutations on the protein function and phenotypes

      Impact

      Science Impact, Ltd.

      Read this article at

      ScienceOpenPublisher
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          In a study published in August of 2017 in the journal Scientific Reports, Hijikata and his team investigated the functional effects of missense mutations on protein structure. ‘Mutations are either considered dominant or recessive, and of the dominant mutations there are three main types,’ outlines Hijikata. ‘Firstly, haploinsufficiency, where one copy of a gene is inactivated or deleted and the remaining copy is not adequate to produce the needed gene product or preserve the normal function. Secondly, dominant-negative, where there is an altered gene that has lost a certain part of its function. Then finally, gain-of-function, where the mutation causes a new function of the gene and produces a new phenotype.’ In the study, Hijikata found a clear relationship between the type of disease-causing missense mutation and the protein macromolecular structure. This discovery implies that it is possible to predict the functional and phenotypic outcomes of a given missense mutation just by looking at the protein’s structure.

          Related collections

          Author and article information

          Journal
          Impact
          impact
          Science Impact, Ltd.
          2398-7073
          December 31 2018
          December 31 2018
          : 2018
          : 12
          : 35-37
          Article
          10.21820/23987073.2018.12.35
          © 2018

          This work is licensed under a Creative Commons Attribution 4.0 Unported License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

          Earth & Environmental sciences, Medicine, Computer science, Agriculture, Engineering

          Comments

          Comment on this article