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Functional variation of SHP-2 promoter is associated with preterm birth and delayed myelination and motor development in preterm infants

Title
Functional variation of SHP-2 promoter is associated with preterm birth and delayed myelination and motor development in preterm infants
Authors
Shim S.-Y.Jeong H.J.Park H.J.Kwon E.Y.Kim B.M.Choi Y.J.Choi Y.-H.Cho S.J.Choi J.H.Park E.A.
Ewha Authors
박은애조수진최윤희최지하
SCOPUS Author ID
박은애scopus; 조수진scopus; 최윤희scopus; 최지하scopus
Issue Date
2017
Journal Title
Scientific Reports
ISSN
2045-2322JCR Link
Citation
vol. 7, no. 1
Publisher
Nature Publishing Group
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
Src homology 2 domain-containing protein tyrosine phosphatase 2 (SHP-2) is a cytoplasmic tyrosine phosphatase that is highly expressed in hematopoietic cells and in the CNS and exerts opposite effects on signal transduction by exerting a neuroprotective or proapoptotic effect. Several mutations of SHP-2 have been found in children with myeloproliferative disorders or malignant leukemia, and some of these can affect brain development. In the present study, we aimed to identify and functionally characterize genetic variations in SHP-2 in 72 preterm and 58 full-term infants and to evaluate the effect of the variations on neurodevelopment in preterm infants. Twelve genetic variations were identified. Among them, two variations in the SHP-2 promoter, g.-317C > T and g.-273G > A, were found to significantly increase promoter activity, and the frequency of g.-273G > A was higher in preterm infants than in full-term infants. Two transcription factors, NF-κB and GABPα, were found to be involved in the transcriptional regulation of SHP-2 by the two above-mentioned variations. In particular, we found that g.-273G > A was significantly associated with delayed myelination and poor motor development in preterm infants. Our results suggest that a functional promoter variation in SHP-2 is associated with spontaneous preterm birth itself as well as white matter myelination and neurodevelopment. © 2017 The Author(s).
DOI
10.1038/s41598-017-06401-x
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
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