Nature Communications (Sep 2016)
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,
- J. G. Seidman
Affiliations
- David M. McKean
- Department of Genetics, Harvard Medical School
- Jason Homsy
- Department of Genetics, Harvard Medical School
- Hiroko Wakimoto
- Department of Genetics, Harvard Medical School
- Neil Patel
- The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
- Joshua Gorham
- Department of Genetics, Harvard Medical School
- Steven R. DePalma
- Department of Genetics, Harvard Medical School
- James S. Ware
- Department of Genetics, Harvard Medical School
- Samir Zaidi
- Department of Genetics, Yale University School of Medicine
- Wenji Ma
- Department of Systems Biology, Columbia University Medical Center
- Nihir Patel
- The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
- Richard P. Lifton
- Department of Genetics, Yale University School of Medicine
- Wendy K. Chung
- Department of Pediatrics and Medicine, Columbia University Medical Center
- Richard Kim
- Section of Cardiothoracic Surgery, University of Southern California Keck School of Medicine
- Yufeng Shen
- Department of Systems Biology, Columbia University Medical Center
- Martina Brueckner
- Department of Genetics, Yale University School of Medicine
- Elizabeth Goldmuntz
- Department of Pediatrics, 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
- Department of Genetics, Harvard Medical School
- Bruce D. Gelb
- The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
- J. G. Seidman
- Department of Genetics, Harvard Medical School
- DOI
- https://doi.org/10.1038/ncomms12824
- Journal volume & issue
-
Vol. 7,
no. 1
pp. 1 – 9
Abstract
Congenital heart disease (CHD) is a disorder that occurs in ∼1% of live births. Here the authors describe a genome-wide allele-specific expression analyses in CHD patients, identifying five new genes involved in CHD and showing that paternally-expressed imprinted genes are monoallelic, while maternally-expressed imprinted genes are biallelic.
