Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis

Detalhes bibliográficos
Autor(a) principal: Mello,Maricilda Palandi de
Data de Publicação: 2010
Outros Autores: Coeli,Fernanda Borchers, Assumpção,Juliana Godoy, Castro,Tammy Mazeo, Maciel-Guerra,Andréa Trevas, Marques-de-Faria,Antônia Paula, Baptista,Maria Tereza Matias, Guerra-Júnior,Gil
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Arquivos Brasileiros de Endocrinologia & Metabologia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302010000800015
Resumo: The Y-chromosome-located SRY gene encodes a small testis-specific protein containing a DNA-binding motif known as the HMG (high mobility group) box. However, mutations in SRY are not frequent especially in cases of 46,XY partial gonadal dysgenesis. Several sex-determining genes direct the fate of the bipotential gonad to either testis or ovary. In addition, heterozygous small deletions in 9p can cause complete and partial XY gonadal dysgenesis without other symptoms. Human DMRT1 gene, which is located at 9p24.3, is expressed in testis and ovary and has been considered, among others, a candidate autosomal gene responsible for gonadal dysgenesis. In this report we describe a nucleotide insertion in DMRT1 3'UTR in a patient of XY partial gonadal dygenesis. The 3'UTR+11insT is located within a conserved motif important for mRNA stabilization.
id SBEM-2_e95b40c5b11b2d0049374fe22657a209
oai_identifier_str oai:scielo:S0004-27302010000800015
network_acronym_str SBEM-2
network_name_str Arquivos Brasileiros de Endocrinologia & Metabologia (Online)
repository_id_str
spelling Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesisThe Y-chromosome-located SRY gene encodes a small testis-specific protein containing a DNA-binding motif known as the HMG (high mobility group) box. However, mutations in SRY are not frequent especially in cases of 46,XY partial gonadal dysgenesis. Several sex-determining genes direct the fate of the bipotential gonad to either testis or ovary. In addition, heterozygous small deletions in 9p can cause complete and partial XY gonadal dysgenesis without other symptoms. Human DMRT1 gene, which is located at 9p24.3, is expressed in testis and ovary and has been considered, among others, a candidate autosomal gene responsible for gonadal dysgenesis. In this report we describe a nucleotide insertion in DMRT1 3'UTR in a patient of XY partial gonadal dygenesis. The 3'UTR+11insT is located within a conserved motif important for mRNA stabilization.Sociedade Brasileira de Endocrinologia e Metabologia2010-11-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302010000800015Arquivos Brasileiros de Endocrinologia & Metabologia v.54 n.8 2010reponame:Arquivos Brasileiros de Endocrinologia & Metabologia (Online)instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)instacron:SBEM10.1590/S0004-27302010000800015info:eu-repo/semantics/openAccessMello,Maricilda Palandi deCoeli,Fernanda BorchersAssumpção,Juliana GodoyCastro,Tammy MazeoMaciel-Guerra,Andréa TrevasMarques-de-Faria,Antônia PaulaBaptista,Maria Tereza MatiasGuerra-Júnior,Gileng2011-02-02T00:00:00Zoai:scielo:S0004-27302010000800015Revistahttps://www.aem-sbem.com/ONGhttps://old.scielo.br/oai/scielo-oai.php||abem-editoria@endocrino.org.br1677-94870004-2730opendoar:2011-02-02T00:00Arquivos Brasileiros de Endocrinologia & Metabologia (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)false
dc.title.none.fl_str_mv Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis
title Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis
spellingShingle Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis
Mello,Maricilda Palandi de
title_short Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis
title_full Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis
title_fullStr Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis
title_full_unstemmed Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis
title_sort Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis
author Mello,Maricilda Palandi de
author_facet Mello,Maricilda Palandi de
Coeli,Fernanda Borchers
Assumpção,Juliana Godoy
Castro,Tammy Mazeo
Maciel-Guerra,Andréa Trevas
Marques-de-Faria,Antônia Paula
Baptista,Maria Tereza Matias
Guerra-Júnior,Gil
author_role author
author2 Coeli,Fernanda Borchers
Assumpção,Juliana Godoy
Castro,Tammy Mazeo
Maciel-Guerra,Andréa Trevas
Marques-de-Faria,Antônia Paula
Baptista,Maria Tereza Matias
Guerra-Júnior,Gil
author2_role author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Mello,Maricilda Palandi de
Coeli,Fernanda Borchers
Assumpção,Juliana Godoy
Castro,Tammy Mazeo
Maciel-Guerra,Andréa Trevas
Marques-de-Faria,Antônia Paula
Baptista,Maria Tereza Matias
Guerra-Júnior,Gil
description The Y-chromosome-located SRY gene encodes a small testis-specific protein containing a DNA-binding motif known as the HMG (high mobility group) box. However, mutations in SRY are not frequent especially in cases of 46,XY partial gonadal dysgenesis. Several sex-determining genes direct the fate of the bipotential gonad to either testis or ovary. In addition, heterozygous small deletions in 9p can cause complete and partial XY gonadal dysgenesis without other symptoms. Human DMRT1 gene, which is located at 9p24.3, is expressed in testis and ovary and has been considered, among others, a candidate autosomal gene responsible for gonadal dysgenesis. In this report we describe a nucleotide insertion in DMRT1 3'UTR in a patient of XY partial gonadal dygenesis. The 3'UTR+11insT is located within a conserved motif important for mRNA stabilization.
publishDate 2010
dc.date.none.fl_str_mv 2010-11-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302010000800015
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302010000800015
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-27302010000800015
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Brasileira de Endocrinologia e Metabologia
publisher.none.fl_str_mv Sociedade Brasileira de Endocrinologia e Metabologia
dc.source.none.fl_str_mv Arquivos Brasileiros de Endocrinologia & Metabologia v.54 n.8 2010
reponame:Arquivos Brasileiros de Endocrinologia & Metabologia (Online)
instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
instacron:SBEM
instname_str Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
instacron_str SBEM
institution SBEM
reponame_str Arquivos Brasileiros de Endocrinologia & Metabologia (Online)
collection Arquivos Brasileiros de Endocrinologia & Metabologia (Online)
repository.name.fl_str_mv Arquivos Brasileiros de Endocrinologia & Metabologia (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
repository.mail.fl_str_mv ||abem-editoria@endocrino.org.br
_version_ 1754734811305476096