Skip to main content
bioRxiv
  • Home
  • About
  • Submit
  • ALERTS / RSS
Advanced Search
New Results

The endometrial transcription landscape of MRKH syndrome

View ORCID ProfileT Hentrich, A Koch, N Weber, A Kilzheimer, S Burkhardt, K Rall, N Casadei, O Kohlbacher, O Riess, View ORCID ProfileJM Schulze-Hentrich, SY Brucker
doi: https://doi.org/10.1101/2020.02.18.954768
T Hentrich
1Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for T Hentrich
A Koch
2Department of Obstetrics and Gynecology, University of Tübingen, Tübingen, Germany
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
N Weber
3Applied Bioinformatics, Department of Computer Science, Tübingen, Germany
5Institute for Bioinformatics and Medical Informatics, University of Tübingen, Tübingen, Germany
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
A Kilzheimer
1Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
S Burkhardt
1Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
K Rall
2Department of Obstetrics and Gynecology, University of Tübingen, Tübingen, Germany
6Rare Disease Center Tübingen, University of Tübingen, Tübingen, Germany
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
N Casadei
1Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany
4NGS Competence Center Tübingen, NCCT, Tübingen, Germany
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
O Kohlbacher
3Applied Bioinformatics, Department of Computer Science, Tübingen, Germany
5Institute for Bioinformatics and Medical Informatics, University of Tübingen, Tübingen, Germany
7Institute for Translational Bioinformatics, University Hospital Tübingen, Tübingen, Germany
8Biomolecular Interactions, Max Planck Institute for Developmental Biology, Tübingen, Germany
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
O Riess
1Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany
6Rare Disease Center Tübingen, University of Tübingen, Tübingen, Germany
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
JM Schulze-Hentrich
1Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany
5Institute for Bioinformatics and Medical Informatics, University of Tübingen, Tübingen, Germany
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for JM Schulze-Hentrich
  • For correspondence: julia.schulze-hentrich@uni-tuebingen.de
SY Brucker
2Department of Obstetrics and Gynecology, University of Tübingen, Tübingen, Germany
6Rare Disease Center Tübingen, University of Tübingen, Tübingen, Germany
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • Abstract
  • Full Text
  • Info/History
  • Metrics
  • Supplementary material
  • Preview PDF
Loading

Abstract

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 this syndrome.

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
Back to top
PreviousNext
Posted February 19, 2020.
Download PDF

Supplementary Material

Email

Thank you for your interest in spreading the word about bioRxiv.

NOTE: Your email address is requested solely to identify you as the sender of this article.

Enter multiple addresses on separate lines or separate them with commas.
The endometrial transcription landscape of MRKH syndrome
(Your Name) has forwarded a page to you from bioRxiv
(Your Name) thought you would like to see this page from the bioRxiv website.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Share
The endometrial transcription landscape of MRKH syndrome
T Hentrich, A Koch, N Weber, A Kilzheimer, S Burkhardt, K Rall, N Casadei, O Kohlbacher, O Riess, JM Schulze-Hentrich, SY Brucker
bioRxiv 2020.02.18.954768; doi: https://doi.org/10.1101/2020.02.18.954768
Digg logo Reddit logo Twitter logo CiteULike logo Facebook logo Google logo Mendeley logo
Citation Tools
The endometrial transcription landscape of MRKH syndrome
T Hentrich, A Koch, N Weber, A Kilzheimer, S Burkhardt, K Rall, N Casadei, O Kohlbacher, O Riess, JM Schulze-Hentrich, SY Brucker
bioRxiv 2020.02.18.954768; doi: https://doi.org/10.1101/2020.02.18.954768

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
  • Tweet Widget
  • Facebook Like
  • Google Plus One

Subject Area

  • Genomics
Subject Areas
All Articles
  • Animal Behavior and Cognition (2635)
  • Biochemistry (5223)
  • Bioengineering (3650)
  • Bioinformatics (15728)
  • Biophysics (7218)
  • Cancer Biology (5597)
  • Cell Biology (8051)
  • Clinical Trials (138)
  • Developmental Biology (4739)
  • Ecology (7472)
  • Epidemiology (2059)
  • Evolutionary Biology (10531)
  • Genetics (7703)
  • Genomics (10090)
  • Immunology (5157)
  • Microbiology (13828)
  • Molecular Biology (5354)
  • Neuroscience (30605)
  • Paleontology (212)
  • Pathology (872)
  • Pharmacology and Toxicology (1520)
  • Physiology (2235)
  • Plant Biology (4987)
  • Scientific Communication and Education (1037)
  • Synthetic Biology (1380)
  • Systems Biology (4131)
  • Zoology (804)