Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency

Tarsha Ward; Warren Tai; Sarah Morton; Francis Impens; Petra Van Damme; Delphi Van Haver; Evy Timmerman; Gabriela Venturini; Kehan Zhang; Min Young Jang; Jon A L Willcox; Alireza Haghighi; Bruce D Gelb; Wendy K Chung; Elizabeth Goldmuntz; George A Porter Jr; Richard P Lifton; Martina Brueckner; H Joseph Yost; Benoit G Bruneau; Joshua Gorham; Yuri Kim; Alexandre Pereira; Jason Homsy; Craig C Benson; Steven R DePalma; Sylvia Varland; Christopher S Chen; Thomas Arnesen; Kris Gevaert; Christine Seidman; J G Seidman

doi:10.1161/CIRCRESAHA.120.316966

Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency

Circ Res. 2021 Apr 16;128(8):1156-1169. doi: 10.1161/CIRCRESAHA.120.316966. Epub 2021 Feb 9.

Authors

Tarsha Ward¹, Warren Tai¹, Sarah Morton^{1

2}, Francis Impens^{3

4

5}, Petra Van Damme⁶, Delphi Van Haver^{3

4

5}, Evy Timmerman^{3

4

5}, Gabriela Venturini^{1

7}, Kehan Zhang^{8

9}, Min Young Jang¹, Jon A L Willcox¹, Alireza Haghighi^{1

10

11}, Bruce D Gelb¹², Wendy K Chung¹³, Elizabeth Goldmuntz¹⁴, George A Porter Jr¹⁵, Richard P Lifton^{16

17}, Martina Brueckner^{16

18}, H Joseph Yost¹⁹, Benoit G Bruneau²⁰, Joshua Gorham¹, Yuri Kim^{1

21}, Alexandre Pereira¹, Jason Homsy¹, Craig C Benson¹, Steven R DePalma¹, Sylvia Varland^{22

23

24}, Christopher S Chen^{8

9}, Thomas Arnesen^{22

23

25}, Kris Gevaert^#⁵, Christine Seidman^#^{1

10

11}, J G Seidman^#¹

Affiliations

¹ Genetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.
² Division of Newborn Medicine, Boston Children's Hospital (S.M.).
³ VIB Center for Medical Biotechnology, B-9000 Ghent, Belgium (F.I., D.V.H., E.T., K.G.).
⁴ VIB Proteomics Core, B-9000 Ghent, Belgium (F.I., D.V.H., E.T.).
⁵ Biomolecular Medicine (F.I., D.V.H., E.T., K.G.), Ghent University, B-9000 Ghent, Belgium.
⁶ Biochemistry and Microbiology (P.V.D.), Ghent University, B-9000 Ghent, Belgium.
⁷ University of Sao Paulo (G.V.).
⁸ Biomedical Engineering, Boston University, MA (K.Z., C.S.C.).
⁹ The Wyss Institute for Biologically Inspired Engineering at Harvard University, Boston, MA (K.Z., C.S.C.).
¹⁰ Howard Hughes Medical Institute (A.H., C.S.), Harvard Medical School.
¹¹ Medicine, Brigham and Women's Hospital (A.H., C.S.).
¹² Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York (B.D.G.).
¹³ Pediatrics and Medicine, Columbia University Medical Center, New York (W.K.C.).
¹⁴ Cardiology, Children's Hospital of Philadelphia, Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia (E.G.).
¹⁵ Pediatrics, University of Rochester Medical Center (G.A.P.).
¹⁶ Genetics, Yale University School of Medicine, New Haven (R.P.L., M.B.).
¹⁷ Laboratory of Human Genetics and Genomics, Rockefeller University, New York (R.P.L.).
¹⁸ Pediatrics, Yale University School of Medicine, New Haven (M.B.).
¹⁹ Molecular Medicine Program, University of Utah, Salt Lake City (H.J.Y.).
²⁰ Gladstone Institutes, San Francisco, CA (B.G.B.).
²¹ Division of Cardiovascular Medicine, Brigham and Women's Hospital (Y.K.).
²² Biomedicine (S.V., T.A.), University of Bergen, N-5020 Bergen, Norway.
²³ Biological Sciences (S.V., T.A.), University of Bergen, N-5020 Bergen, Norway.
²⁴ Donnelly Centre for Cellular and Biomolecular Research, Toronto, Canada (S.V.).
²⁵ Surgery, Haukeland University Hospital, N-5021 Bergen, Norway (T.A.).

^# Contributed equally.

Abstract

[Figure: see text].

Keywords: congenital heart defects; haploinsufficiency; induced pluripotent stem cells; proteins; proteomics; ribosomes.

Publication types

Clinical Trial
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Acetylation
Cells, Cultured
Child
Haploinsufficiency
Heart Defects, Congenital / genetics*
Heart Defects, Congenital / metabolism
Heart Defects, Congenital / pathology
Humans
Induced Pluripotent Stem Cells / metabolism
Mutation, Missense
N-Terminal Acetyltransferase A / genetics*
N-Terminal Acetyltransferase E / genetics*
Protein Processing, Post-Translational*
Proteome / metabolism

Substances

NAA15 protein, human
Proteome
N-Terminal Acetyltransferase A
N-Terminal Acetyltransferase E

Abstract

Publication types

MeSH terms

Substances

Grants and funding