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© 1993 Oxford University Press

RESEARCH-ARTICLE

Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome

Stephanie Halford+, David I Wilson+,1,2, Sara C.M. DAW, Cathrine Roberts, Roy Wadey, Shalan Kamath, Amal Wickremasinghe, John Burn2, Judith Goodship2, Marie-Genevieve Mattel3, F.M. Moormon1 and Peter J. Sclambler*

Molecular Medicine Unit, Institute of Child Health London WC1N 1EH, UK 1Department of Anatomy and Embryology, University of Amsterdam 1105AZ Amsterdam The Netherlands 2Division of Human Genetics, Newcastle University Newcastle-upon-Tyne NE2 4AA UK 3U242, Physopathologie Chromosomique Faculte de Medicine 27, Bd. Jean Moutin, Marseille 13385 Cedex 5, France

*To whom correspondence should be addressed

Received July 5, 1993; Revised August 12, 1993; Accepted August 12, 1993

DiGeorge syndrome (DGS) is one of several syndromes associated with deletions within the proximal long-arm of chromosome 22. The region of chromosome 22q11 responsible for the haplolnsufficiency syndromes (the DiGeorge Critical Region or DGCR) has been mapped using RFLPs, quantitative Southern blotting and FISH. Similar deletions are seen in the velo-cardio-facial syndrome (VCFS) and familial congenital heart defects. It Is not known whether the phenotypic spectrum is the result of the hemizygosity of one gene or whether it is a consequence of contiguous genes being deleted. However, the majority of patients have a large (< =2Mb deletion). In this paper we report the isolation of a gene, lab name T10, encoding a serine/threonine rich protein of unknown function which maps to the commonly deleted region of chromosome 22q11. Studies in the mouse Indicate that it maps to MMU16 and is expressed during early embryogenesis. Although not mapping within the shortest region of overlap for DGS/VCFS, and therefore not the major gene Involved In DGS, the expression pattern suggests that this gene may be involved in modifying the haplolnsufficient phenotype of hemizygous patients.

+These equal contribution to this work and are listed alphabetically


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