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Molecular basis for phenotypic similarity of genetic disorders
The contribution of distinct genes to overlapping phenotypes suggests that such genes share ancestral origins, membership of disease pathways, or molecular functions. A recent study by Liu and colleagues identified mutations in TCF20, a paralog of RAI1, among individuals manifesting a novel syndrome...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6477710/ https://www.ncbi.nlm.nih.gov/pubmed/31014384 http://dx.doi.org/10.1186/s13073-019-0641-y |
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author | Pounraja, Vijay Kumar Girirajan, Santhosh |
author_facet | Pounraja, Vijay Kumar Girirajan, Santhosh |
author_sort | Pounraja, Vijay Kumar |
collection | PubMed |
description | The contribution of distinct genes to overlapping phenotypes suggests that such genes share ancestral origins, membership of disease pathways, or molecular functions. A recent study by Liu and colleagues identified mutations in TCF20, a paralog of RAI1, among individuals manifesting a novel syndrome that has phenotypes similar to those of Smith-Magenis syndrome (a disorder caused by disruption of RAI1). This study highlights how structural similarity among genes contributes to shared phenotypes, and shows how this relationship can contribute to our understanding of the genetic basis of complex disorders. |
format | Online Article Text |
id | pubmed-6477710 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-64777102019-05-01 Molecular basis for phenotypic similarity of genetic disorders Pounraja, Vijay Kumar Girirajan, Santhosh Genome Med Research Highlight The contribution of distinct genes to overlapping phenotypes suggests that such genes share ancestral origins, membership of disease pathways, or molecular functions. A recent study by Liu and colleagues identified mutations in TCF20, a paralog of RAI1, among individuals manifesting a novel syndrome that has phenotypes similar to those of Smith-Magenis syndrome (a disorder caused by disruption of RAI1). This study highlights how structural similarity among genes contributes to shared phenotypes, and shows how this relationship can contribute to our understanding of the genetic basis of complex disorders. BioMed Central 2019-04-23 /pmc/articles/PMC6477710/ /pubmed/31014384 http://dx.doi.org/10.1186/s13073-019-0641-y Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Research Highlight Pounraja, Vijay Kumar Girirajan, Santhosh Molecular basis for phenotypic similarity of genetic disorders |
title | Molecular basis for phenotypic similarity of genetic disorders |
title_full | Molecular basis for phenotypic similarity of genetic disorders |
title_fullStr | Molecular basis for phenotypic similarity of genetic disorders |
title_full_unstemmed | Molecular basis for phenotypic similarity of genetic disorders |
title_short | Molecular basis for phenotypic similarity of genetic disorders |
title_sort | molecular basis for phenotypic similarity of genetic disorders |
topic | Research Highlight |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6477710/ https://www.ncbi.nlm.nih.gov/pubmed/31014384 http://dx.doi.org/10.1186/s13073-019-0641-y |
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