Functional Analysis of Mutations in TGIF Associated with Holoprosencephaly

Overview

Journal Mol Genet Metab

Specialty Endocrinology

Date 2006 Sep 12

PMID 16962354

Citations 27

Authors

Kenia B El-Jaick

Shannon E Powers

Laurent Bartholin

Kenneth R Myers

Jin Hahn

Ieda M Orioli

Maia Ouspenskaia

Felicitas Lacbawan

Erich Roessler

David Wotton

Maximilian Muenke

Affiliations

Soon will be listed here.

Abstract

Holoprosencephaly (HPE) is the most common structural malformation of the forebrain and face in humans. Our current understanding of the pathogenesis of HPE attempts to integrate genetic susceptibility, evidenced by mutations in the known HPE genes, with the epigenetic influence of environmental factors. Mutations or deletions of the human TGIF gene have been associated with HPE in multiple population cohorts. Here we examine the functional effects of all previously reported mutations, and describe four additional variants. Of the eleven sequence variations in TGIF, all but four can be demonstrated to be functionally abnormal. In contrast, no potentially pathogenic sequence alterations were detected in the related gene TGIF2. These results provide further evidence of a role for TGIF in HPE and demonstrate the importance of functional analysis of putative disease-associated alleles.

Citing Articles

Structural Insight into the Binding of TGIF1 to SIN3A PAH2 Domain through a C-Terminal Amphipathic Helix.

He X, Nie Y, Zhou H, Hu R, Li Y, He T Int J Mol Sci. 2021; 22(23).

PMID: 34884456 PMC: 8657803. DOI: 10.3390/ijms222312631.

Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.

Nakaguma M, Ferreira N, Benedetti A, Madi M, Silva J, Li J Genes (Basel). 2021; 12(8).

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New and Known Variants in a Series of Latin American Patients with Holoprosencephaly.

de Castro V, Mattos D, de Carvalho F, Cavalcanti D, Duenas-Roque M, Llerena Jr J Mol Syndromol. 2021; 12(4):219-233.

PMID: 34421500 PMC: 8339482. DOI: 10.1159/000515044.

TGIF1 Knockdown Inhibits the Proliferation and Invasion of Gastric Cancer via AKT Signaling Pathway.

Zhang J, Zhang F, Fan J, Feng B Cancer Manag Res. 2021; 13:2603-2612.

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Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.

Vishnopolska S, Mercogliano M, Camilletti M, Mortensen A, Braslavsky D, Keselman A J Clin Endocrinol Metab. 2021; 106(7):1956-1976.

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