Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient

• Parvathy Venugopal,
• Sarah Moore,
• David M. Lawrence,
• Amee J. George,
• Ross D. Hannan,
• Sarah CE Bray,
• Luen Bik To,
• Richard J. D’Andrea,
• Jinghua Feng,
• Amanda Tirimacco,
• Alexandra L Yeoman,
• Chun Chun Young,
• Miriam Fine,
• Andreas W Schreiber,
• Christopher N. Hahn,
• Christopher Barnett,
• Ben Saxon,
• Hamish S. Scott

Affiliations

Parvathy Venugopal

Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia;Centre for Cancer Biology, SA Pathology, Adelaide, Australia;School of Biological Sciences, University of Adelaide, SA 5005, Australia

Sarah Moore

Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia

David M. Lawrence

School of Biological Sciences, University of Adelaide, SA 5005, Australia;Australian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, Australia

Amee J. George

ACRF Department of Cancer Biology and Therapeutics, John Curtin School of Medical Research, The Australian National University, Acton, ACT, Australia;Oncogenic Signalling and Growth Control Program, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia;School of Biomedical Sciences, University of Queensland, St. Lucia, Australia

Ross D. Hannan

ACRF Department of Cancer Biology and Therapeutics, John Curtin School of Medical Research, The Australian National University, Acton, ACT, Australia;Oncogenic Signalling and Growth Control Program, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia;School of Biomedical Sciences, University of Queensland, St. Lucia, Australia;Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Victoria, Australia;Department of Biochemistry and Molecular Biology, University of Melbourne, Parkville, Victoria, Australia;Department of Biochemistry and Molecular Biology, Monash University, Clayton, Victoria, Australia

Sarah CE Bray

Centre for Cancer Biology, SA Pathology, Adelaide, Australia;School of Medicine, University of Adelaide, Australia

Luen Bik To

School of Medicine, University of Adelaide, Australia;Division of Haematology, SA Pathology, Adelaide, Australia

Richard J. D’Andrea

Centre for Cancer Biology, SA Pathology, Adelaide, Australia;Division of Haematology, SA Pathology, Adelaide, Australia;School of Pharmacy and Medical Sciences, Division of Health Sciences, University of South Australia, Australia

Jinghua Feng

Australian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, Australia;School of Pharmacy and Medical Sciences, Division of Health Sciences, University of South Australia, Australia

Amanda Tirimacco

Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia

Alexandra L Yeoman

Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia

Chun Chun Young

Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia

Miriam Fine

South Australian Clinical Genetics Service, SA Pathology, Women’s and Children’s Hospital, North Adelaide, Australia

Andreas W Schreiber

School of Biological Sciences, University of Adelaide, SA 5005, Australia;Australian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, Australia;School of Pharmacy and Medical Sciences, Division of Health Sciences, University of South Australia, Australia

Christopher N. Hahn

Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia;Centre for Cancer Biology, SA Pathology, Adelaide, Australia;School of Medicine, University of Adelaide, Australia;School of Pharmacy and Medical Sciences, Division of Health Sciences, University of South Australia, Australia

Christopher Barnett

School of Medicine, University of Adelaide, Australia;South Australian Clinical Genetics Service, SA Pathology, Women’s and Children’s Hospital, North Adelaide, Australia

Ben Saxon

School of Medicine, University of Adelaide, Australia;Department of Haematology, SA Pathology, Women’s and Children’s Hospital, North Adelaide, Australia

Hamish S. Scott

Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia;Centre for Cancer Biology, SA Pathology, Adelaide, Australia;School of Biological Sciences, University of Adelaide, SA 5005, Australia;School of Medicine, University of Adelaide, Australia;School of Pharmacy and Medical Sciences, Division of Health Sciences, University of South Australia, Australia