Cargando…
The Endometrial Transcription Landscape of MRKH Syndrome
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (OMIM 277000) is characterized by agenesis of the uterus and upper part of the vagina in females with normal ovarian function. While genetic causes have been identified for a small subset of patients and epigenetic mechanisms presumably contribute t...
Autores principales: | , , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7542331/ https://www.ncbi.nlm.nih.gov/pubmed/33072755 http://dx.doi.org/10.3389/fcell.2020.572281 |
_version_ | 1783591527408205824 |
---|---|
author | Hentrich, Thomas Koch, André Weber, Nico Kilzheimer, Alexander Maia, Ana Burkhardt, Simone Rall, Katharina Casadei, Nicolas Kohlbacher, Oliver Riess, Olaf Schulze-Hentrich, Julia Maria Brucker, Sara Yvonne |
author_facet | Hentrich, Thomas Koch, André Weber, Nico Kilzheimer, Alexander Maia, Ana Burkhardt, Simone Rall, Katharina Casadei, Nicolas Kohlbacher, Oliver Riess, Olaf Schulze-Hentrich, Julia Maria Brucker, Sara Yvonne |
author_sort | Hentrich, Thomas |
collection | PubMed |
description | The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (OMIM 277000) is characterized by agenesis of the uterus and upper part of the vagina in females with normal ovarian function. While genetic causes have been identified for a small subset of patients and epigenetic mechanisms presumably contribute to the pathogenic unfolding, too, the etiology of the syndrome has remained largely enigmatic. A comprehensive understanding of gene activity in the context of the disease is crucial to identify etiological components and their potential interplay. So far, this understanding is lacking, primarily due to the scarcity of samples and suitable tissue. In order to close this gap, we profiled endometrial tissue of uterus rudiments in a large cohort of MRKH patients using RNA-seq and thereby provide a genome-wide view on the altered transcription landscape of the MRKH syndrome. Differential and co-expression analyses of the data identified cellular processes and candidate genes that converge on a core network of interconnected regulators that emerge as pivotal for the perturbed expression space. With these results and browsable access to the rich data through an online tool we seek to accelerate research to unravel the underlying biology of the syndrome. |
format | Online Article Text |
id | pubmed-7542331 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-75423312020-10-16 The Endometrial Transcription Landscape of MRKH Syndrome Hentrich, Thomas Koch, André Weber, Nico Kilzheimer, Alexander Maia, Ana Burkhardt, Simone Rall, Katharina Casadei, Nicolas Kohlbacher, Oliver Riess, Olaf Schulze-Hentrich, Julia Maria Brucker, Sara Yvonne Front Cell Dev Biol Cell and Developmental Biology The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (OMIM 277000) is characterized by agenesis of the uterus and upper part of the vagina in females with normal ovarian function. While genetic causes have been identified for a small subset of patients and epigenetic mechanisms presumably contribute to the pathogenic unfolding, too, the etiology of the syndrome has remained largely enigmatic. A comprehensive understanding of gene activity in the context of the disease is crucial to identify etiological components and their potential interplay. So far, this understanding is lacking, primarily due to the scarcity of samples and suitable tissue. In order to close this gap, we profiled endometrial tissue of uterus rudiments in a large cohort of MRKH patients using RNA-seq and thereby provide a genome-wide view on the altered transcription landscape of the MRKH syndrome. Differential and co-expression analyses of the data identified cellular processes and candidate genes that converge on a core network of interconnected regulators that emerge as pivotal for the perturbed expression space. With these results and browsable access to the rich data through an online tool we seek to accelerate research to unravel the underlying biology of the syndrome. Frontiers Media S.A. 2020-09-24 /pmc/articles/PMC7542331/ /pubmed/33072755 http://dx.doi.org/10.3389/fcell.2020.572281 Text en Copyright © 2020 Hentrich, Koch, Weber, Kilzheimer, Maia, Burkhardt, Rall, Casadei, Kohlbacher, Riess, Schulze-Hentrich and Brucker. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Cell and Developmental Biology Hentrich, Thomas Koch, André Weber, Nico Kilzheimer, Alexander Maia, Ana Burkhardt, Simone Rall, Katharina Casadei, Nicolas Kohlbacher, Oliver Riess, Olaf Schulze-Hentrich, Julia Maria Brucker, Sara Yvonne The Endometrial Transcription Landscape of MRKH Syndrome |
title | The Endometrial Transcription Landscape of MRKH Syndrome |
title_full | The Endometrial Transcription Landscape of MRKH Syndrome |
title_fullStr | The Endometrial Transcription Landscape of MRKH Syndrome |
title_full_unstemmed | The Endometrial Transcription Landscape of MRKH Syndrome |
title_short | The Endometrial Transcription Landscape of MRKH Syndrome |
title_sort | endometrial transcription landscape of mrkh syndrome |
topic | Cell and Developmental Biology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7542331/ https://www.ncbi.nlm.nih.gov/pubmed/33072755 http://dx.doi.org/10.3389/fcell.2020.572281 |
work_keys_str_mv | AT hentrichthomas theendometrialtranscriptionlandscapeofmrkhsyndrome AT kochandre theendometrialtranscriptionlandscapeofmrkhsyndrome AT webernico theendometrialtranscriptionlandscapeofmrkhsyndrome AT kilzheimeralexander theendometrialtranscriptionlandscapeofmrkhsyndrome AT maiaana theendometrialtranscriptionlandscapeofmrkhsyndrome AT burkhardtsimone theendometrialtranscriptionlandscapeofmrkhsyndrome AT rallkatharina theendometrialtranscriptionlandscapeofmrkhsyndrome AT casadeinicolas theendometrialtranscriptionlandscapeofmrkhsyndrome AT kohlbacheroliver theendometrialtranscriptionlandscapeofmrkhsyndrome AT riessolaf theendometrialtranscriptionlandscapeofmrkhsyndrome AT schulzehentrichjuliamaria theendometrialtranscriptionlandscapeofmrkhsyndrome AT bruckersarayvonne theendometrialtranscriptionlandscapeofmrkhsyndrome AT hentrichthomas endometrialtranscriptionlandscapeofmrkhsyndrome AT kochandre endometrialtranscriptionlandscapeofmrkhsyndrome AT webernico endometrialtranscriptionlandscapeofmrkhsyndrome AT kilzheimeralexander endometrialtranscriptionlandscapeofmrkhsyndrome AT maiaana endometrialtranscriptionlandscapeofmrkhsyndrome AT burkhardtsimone endometrialtranscriptionlandscapeofmrkhsyndrome AT rallkatharina endometrialtranscriptionlandscapeofmrkhsyndrome AT casadeinicolas endometrialtranscriptionlandscapeofmrkhsyndrome AT kohlbacheroliver endometrialtranscriptionlandscapeofmrkhsyndrome AT riessolaf endometrialtranscriptionlandscapeofmrkhsyndrome AT schulzehentrichjuliamaria endometrialtranscriptionlandscapeofmrkhsyndrome AT bruckersarayvonne endometrialtranscriptionlandscapeofmrkhsyndrome |