Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis
Autor(a) principal: | |
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Data de Publicação: | 2010 |
Outros Autores: | , , , , , , |
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. |
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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 |
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1754734811305476096 |