PMID- 26713410
OWN - NLM
STAT- MEDLINE
DCOM- 20160801
LR  - 20181113
IS  - 1545-5017 (Electronic)
IS  - 1545-5009 (Print)
IS  - 1545-5009 (Linking)
VI  - 63
IP  - 5
DP  - 2016 May
TI  - A Child With Dyserythropoietic Anemia and Megakaryocyte Dysplasia Due to a Novel 
      5'UTR GATA1s Splice Mutation.
PG  - 917-21
LID - 10.1002/pbc.25871 [doi]
AB  - We describe a child with dyserythropoietic anemia, thrombocytosis, functional 
      platelet defect, and megakaryocyte dysplasia. We show that (i) this constellation 
      of hematopoietic abnormalities was due to a germline mutation within the 5' 
      untranslated region (5'UTR) of globin transcription factor 1 (GATA1); (ii) the 
      mutation impaired a 5'UTR GATA1 splicing site, with promoted production of the 
      shortened GATA1 isoform lacking the N-terminus; and (iii) expression of the GATA1 
      N-terminus is restricted to erythroblasts and megakaryocytes in normal marrow, 
      consistent with the patient's abnormal erythropoiesis and megakaryopoiesis. Our 
      findings provide insights into the clinically relevant in vivo function of the 
      N-terminal domain of GATA1 in human hematopoiesis.
CI  - (c) 2015 Wiley Periodicals, Inc.
FAU - Zucker, Jacob
AU  - Zucker J
AD  - Department of Pediatrics, Herman B Wells Center for Pediatric Research, Indiana 
      University School of Medicine, Indianapolis, Indiana.
AD  - Division of Pediatric Hematology-Oncology, Bone Marrow Failure Program, Riley 
      Hospital for Children, Indianapolis, Indiana.
FAU - Temm, Constance
AU  - Temm C
AD  - Department of Pathology and Laboratory Medicine, Indiana University School of 
      Medicine, Indianapolis, Indiana.
FAU - Czader, Magdalena
AU  - Czader M
AD  - Department of Pathology and Laboratory Medicine, Indiana University School of 
      Medicine, Indianapolis, Indiana.
FAU - Nalepa, Grzegorz
AU  - Nalepa G
AD  - Department of Pediatrics, Herman B Wells Center for Pediatric Research, Indiana 
      University School of Medicine, Indianapolis, Indiana.
AD  - Division of Pediatric Hematology-Oncology, Bone Marrow Failure Program, Riley 
      Hospital for Children, Indianapolis, Indiana.
AD  - Department of Biochemistry and Molecular Biology, Indiana University School of 
      Medicine, Indianapolis, Indiana.
AD  - Department of Medical and Molecular Genetics, Indiana University School of 
      Medicine, Indianapolis, Indiana.
LA  - eng
GR  - K12 HD068371/HD/NICHD NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20151229
PL  - United States
TA  - Pediatr Blood Cancer
JT  - Pediatric blood & cancer
JID - 101186624
RN  - 0 (5' Untranslated Regions)
RN  - 0 (GATA1 Transcription Factor)
RN  - 0 (GATA1 protein, human)
RN  - 0 (Protein Isoforms)
RN  - 0 (RNA Splice Sites)
SB  - IM
MH  - *5' Untranslated Regions
MH  - Alternative Splicing
MH  - Anemia, Dyserythropoietic, Congenital/*genetics/metabolism
MH  - Child, Preschool
MH  - GATA1 Transcription Factor/biosynthesis/*genetics
MH  - Humans
MH  - Male
MH  - *Megakaryocytes
MH  - Protein Isoforms/biosynthesis/genetics
MH  - *RNA Splice Sites
PMC - PMC5138049
MID - NIHMS832329
OTO - NOTNLM
OT  - GATA1
OT  - dyserythropoietic anemia
OT  - megakaryocyte dysplasia
COIS- disclosure The authors declare no competing financial interests.
EDAT- 2015/12/30 06:00
MHDA- 2016/08/02 06:00
PMCR- 2017/05/01
CRDT- 2015/12/30 06:00
PHST- 2015/07/04 00:00 [received]
PHST- 2015/11/22 00:00 [accepted]
PHST- 2015/12/30 06:00 [entrez]
PHST- 2015/12/30 06:00 [pubmed]
PHST- 2016/08/02 06:00 [medline]
PHST- 2017/05/01 00:00 [pmc-release]
AID - 10.1002/pbc.25871 [doi]
PST - ppublish
SO  - Pediatr Blood Cancer. 2016 May;63(5):917-21. doi: 10.1002/pbc.25871. Epub 2015 
      Dec 29.