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Publication : Common and distinct transcriptional signatures of mammalian embryonic lethality.

First Author  Collins JE Year  2019
Journal  Nat Commun Volume  10
Issue  1 Pages  2792
PubMed ID  31243271 Mgi Jnum  J:277825
Mgi Id  MGI:6324002 Doi  10.1038/s41467-019-10642-x
Citation  Collins JE, et al. (2019) Common and distinct transcriptional signatures of mammalian embryonic lethality. Nat Commun 10(1):2792
abstractText  The Deciphering the Mechanisms of Developmental Disorders programme has analysed the morphological and molecular phenotypes of embryonic and perinatal lethal mouse mutant lines in order to investigate the causes of embryonic lethality. Here we show that individual whole-embryo RNA-seq of 73 mouse mutant lines (>1000 transcriptomes) identifies transcriptional events underlying embryonic lethality and associates previously uncharacterised genes with specific pathways and tissues. For example, our data suggest that Hmgxb3 is involved in DNA-damage repair and cell-cycle regulation. Further, we separate embryonic delay signatures from mutant line-specific transcriptional changes by developing a baseline mRNA expression catalogue of wild-type mice during early embryogenesis (4-36 somites). Analysis of transcription outside coding sequence identifies deregulation of repetitive elements in Morc2a mutants and a gene involved in gene-specific splicing. Collectively, this work provides a large scale resource to further our understanding of early embryonic developmental disorders.
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