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Article

Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.

Human genetics - 1 Dec 2013

Leoyklang Petcharat, Suphapeetiporn Kanya, Srichomthong Chalurmpon, Tongkobpetch Siraprapa, Fietze Stefanie, Dorward Heidi, Cullinane Andrew R, Gahl William A, Huizing Marjan, Shotelersuk Vorasuk

Abstract excerpt

Two syndromic cognitive impairment disorders have very similar craniofacial dysmorphisms. One is caused by mutations of SATB2, a transcription regulator and the other by heterozygous mutations leading to premature stop codons in UPF3B, encoding a member of the nonsense-mediated mRNA decay complex. Here we demonstrate that the products of these two causative genes function in the same pathway. We show that the...

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Identifiers

PMID: 23925499
DOI: 10.1007/s00439-013-1345-9
PMCID: PMC4160176

Genes

SATB2

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Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.PMID 23925499Read ↗

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UPF3A and UPF3B are redundant and modular activators of nonsense-mediated mRNA decay in human cellsSemantic proximity Read ↗

Functional Analyses of SATB2 Variants Reveal Pathogenicity Mechanisms Linked With SATB2-Associated Syndrome.Semantic proximity Read ↗

UPF3A is a ubiquitously expressed NMD factor among mouse tissuesSemantic proximity Read ↗

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunctionSemantic proximity Read ↗

Further delineation of the SATB2 phenotype.Semantic proximity Read ↗

Structures of nonsense-mediated mRNA decay factors UPF3B and UPF3A in complex with UPF2 reveal molecular basis for competitive binding and for neurodevelopmental disorder-causing mutation.Semantic proximity Read ↗

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.Semantic proximity Read ↗

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