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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...

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Detalles Bibliográficos
Autores principales: Pounraja, Vijay Kumar, Girirajan, Santhosh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
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.
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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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