Regular Article
Molecular Cloning and Mapping of Human Semaphorin F from the Cri-du-chat Candidate Interval

https://doi.org/10.1006/bbrc.1997.8027Get rights and content

Abstract

Cri-du-chat is a human contiguous gene deletion syndrome resulting from hemizygous deletions of chromosome 5p. Here we describe the isolation from within this interval of the human Semaphorin F (SEMAF) gene, a member of a family of proteins that has been implicated in axonal pathfinding. The humanSEMAFgene covers at least 10% of the deleted region and defines a new class within this large gene family characterized by the presence of seven type 1 thrombospondin repeats. Prominent expression of murine semaphorin F (Semaf) was observed in the mouse brain, consistent with a role for semaphorin F as a signaling molecule that guides axons or migrating neuronal precursors during development. The known functions of semaphorins and the interesting pattern of expression forSemafsuggest that haploinsufficiency forSEMAFmay disrupt normal brain development and might lead to some of the features of Cri-du-chat.

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  • Cited by (0)

    Seidman, J.

    1

    To whom correspondence should be addressed at 5323 Harry Hines Boulevard, NB10.106, University of Texas Southwestern Medical Center, Dallas, Texas 75235-8591. Fax: 214-648-1656. E-mail: [email protected].

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