Molecular mechanisms of holoprosencephaly

被引：98

作者：

Wallis, DE ^{[1
]}

Muenke, M

机构：

[1] Univ Penn, Childrens Hosp Philadelphia, Sch Med, Dept Pediat, Philadelphia, PA 19104 USA

[2] Univ Penn, Childrens Hosp Philadelphia, Sch Med, Dept Genet, Philadelphia, PA 19104 USA

[3] Univ Penn, Childrens Hosp Philadelphia, Sch Med, Dept Neurol, Philadelphia, PA 19104 USA

[4] NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 1999年 / 68卷 / 02期

基金：

美国国家卫生研究院;

关键词：

holoprosencephaly; forebrain development; sonic hedgehog; ZICS; SIX3; nodal; one-eyed pinhead; TGIF;

D O I：

10.1006/mgme.1999.2895

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Holoprosencephaly (HPE) is the most common developmental defect of the forebrain in humans. Several distinct human genes for holoprosencephaly have now been identified. They include Sonic hedgehog (SBR), ZIC2, and SIX3. Many additional genes involved in forebrain development are rapidly being cloned and characterized in model vertebrate organisms. These include Patched (Pfc), Smoothened (Smo), cubitus interuptus (ci)/Gli wingless (wg/Wnt, decapentaplegic (dpp)/BMP, Hedgehog interacting protein (Hip), nodal, Smads, One-eyed pinhead (Oep), and TO-Interacting Factor (TGIF). However, further analysis is needed before their roles in HPE can be established. Here we present an overview of the presently known genes causing human holoprosencephaly and describe candidate genes involved in forebrain development identified in other systems. A model is discussed for how these genes may interact within and between several different signaling pathways to direct the formation of the forebrain. (C) 1999 Academic Press.

引用

页码：126 / 138

页数：13

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