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Article

Regulation of SPRY3 by X chromosome and PAR2-linked promoters in an autism susceptibility region.

Human molecular genetics - 15 Sept 2015

Ning Zhenfei, McLellan Andrew S, Ball Melanie, Wynne Freda, O'Neill Cora, Mills Walter, Quinn John P, Kleinjan Dirk A, Anney Richard J, Carmody Ruaidhre J, O'Keeffe Gerard, Moore Tom

Abstract excerpt

Sprouty proteins are regulators of cell growth and branching morphogenesis. Unlike mouse Spry3, which is X-linked, human SPRY3 maps to the pseudoautosomal region 2; however, the human Y-linked allele is not expressed due to epigenetic silencing by an unknown mechanism. SPRY3 maps adjacent to X-linked Trimethyllysine hydroxylase epsilon (TMLHE), recently identified as an autism susceptibility gene. We report that...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26089202
DOI: 10.1093/hmg/ddv231

Genes

SPRY3
TMLHE
EGR1
MAZ
PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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