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

Juan José Fuentes, Melanie A. Pritchard, Anna M. Planas, Assumpciò Bosch, Isidre Ferrer, Xavier P. Estivill

Research output: Contribution to journalArticle

201 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1935-1944
Number of pages10
JournalHuman Molecular Genetics
Volume4
Issue number10
DOIs
Publication statusPublished - Oct 1995
Externally publishedYes

Fingerprint

Fetal Heart
Critical region
Down Syndrome
Proline
Brain
Genes
Gene
Proteins
Protein
Defects
Intellectual Disability
Signal transduction
Transcriptional Regulation
Signal Transduction
Neurology
System Development
Phenotype
Cardiac
src Homology Domains
Congenital Heart Defects

ASJC Scopus subject areas

  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)
  • Genetics

Cite this

A new human gene from the down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart. / Fuentes, Juan José; Pritchard, Melanie A.; Planas, Anna M.; Bosch, Assumpciò; Ferrer, Isidre; Estivill, Xavier P.

In: Human Molecular Genetics, Vol. 4, No. 10, 10.1995, p. 1935-1944.

Research output: Contribution to journalArticle

Fuentes, Juan José ; Pritchard, Melanie A. ; Planas, Anna M. ; Bosch, Assumpciò ; Ferrer, Isidre ; Estivill, Xavier P. / A new human gene from the down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart. In: Human Molecular Genetics. 1995 ; Vol. 4, No. 10. pp. 1935-1944.
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