Loss of RNA expression and allele-specific expression associated with congenital heart disease

David M. McKean, Jason Homsy, Hiroko Wakimoto, Neil Patel, Joshua Gorham, Steven R. DePalma, James S. Ware, Samir Zaidi, Wenji Ma, Nihir Patel, Richard P. Lifton, Wendy K. Chung, Richard Kim, Yufeng Shen, Martina Brueckner, Elizabeth Goldmuntz, Andrew J. Sharp, Christine E. Seidman, Bruce D. Gelb and J. G. Seidman ()
Additional contact information
David M. McKean: Harvard Medical School
Jason Homsy: Harvard Medical School
Hiroko Wakimoto: Harvard Medical School
Neil Patel: The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
Joshua Gorham: Harvard Medical School
Steven R. DePalma: Harvard Medical School
James S. Ware: Harvard Medical School
Samir Zaidi: Yale University School of Medicine
Wenji Ma: Columbia University Medical Center
Nihir Patel: The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
Richard P. Lifton: Yale University School of Medicine
Wendy K. Chung: Columbia University Medical Center
Richard Kim: Section of Cardiothoracic Surgery, University of Southern California Keck School of Medicine
Yufeng Shen: Columbia University Medical Center
Martina Brueckner: Yale University School of Medicine
Elizabeth Goldmuntz: The Perelman School of Medicine, University of Pennsylvania
Andrew J. Sharp: The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
Christine E. Seidman: Harvard Medical School
Bruce D. Gelb: The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
J. G. Seidman: Harvard Medical School

Nature Communications, 2016, vol. 7, issue 1, 1-9

Abstract: Abstract Congenital heart disease (CHD), a prevalent birth defect occurring in 1% of newborns, likely results from aberrant expression of cardiac developmental genes. Mutations in a variety of cardiac transcription factors, developmental signalling molecules and molecules that modify chromatin cause at least 20% of disease, but most CHD remains unexplained. We employ RNAseq analyses to assess allele-specific expression (ASE) and biallelic loss-of-expression (LOE) in 172 tissue samples from 144 surgically repaired CHD subjects. Here we show that only 5% of known imprinted genes with paternal allele silencing are monoallelic versus 56% with paternal allele expression—this cardiac-specific phenomenon seems unrelated to CHD. Further, compared with control subjects, CHD subjects have a significant burden of both LOE genes and ASE events associated with altered gene expression. These studies identify FGFBP2, LBH, RBFOX2, SGSM1 and ZBTB16 as candidate CHD genes because of significantly altered transcriptional expression.

Date: 2016
References: Add references at CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/ncomms12824 Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:7:y:2016:i:1:d:10.1038_ncomms12824

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/ncomms12824

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().