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© 1995 Oxford University Press

OTHER

A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart

Juan-José Fuentes1, Melanie A. Pritchard1, Anna M. Planas, Assumpciò Bosch1, Isidre Ferrer3 and Xavier Estivill1,4,*

Pharmacology and Toxicology Department Centro de Investigación y Desarrolo, CSIC, Jordi Girona 18-26, 08034 11Molecular Genetics Department. Cancer Research Institute Hospital Duran i Reynals, Avenida de Castelldefels Km 2 7, L'Hospitalet de Llobregat, 08907 Barcelona 3Neuropathology Unit, Pathology Service, Hospital Princeps d'Espariya Feixa Liarga s/n, L'Hospitalet do Llobregat, 08907 Barcelona 4Genetics Service, Hospital Clinic i Provincial Villarroel 170, 08036 Barcelona, Catalonia, Spain

*To whom correspondence should be addressed

Received June 15, 1995; Revised July 21, 1995; Accepted July 21, 1995

Down syndrome is a major cause of mental retardation and congenital heart defects. While most of the affected individuals have three copies of chromo some 21, patients with partial trisomy 21 have also been described. These rare cases define a minimal region for the Down syndrome phenotype encompassing about 3 Mb around D21S55. By using a new method for the identification of coding sequences (Alu-splice PCR) we have identified a new gene, DSCR1, from region 21q22.1–q22.2. DSCR1 encodes a novel protein which has an acidic domain, a serine-proline motif, a putative DNA binding domain and a proline-rich region with the characteristics of a SH3 domain ligand. These features suggest that DSCR1 could be involved in transcriptional regulation and/or signal transduction. DSCR1 is highly expressed in human brain and heart, and increased expression in the brains of young rats compared with adults suggests a role for DSCR1 during central nervous system development. Structural characteristics, together with its particular expression in brain and heart, encourage us to suggest that the overexpression of DSCR1 may be involved in the pathogenesis of Down syndrome, in particular mental retardation and/ or cardiac defects.


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