Gene sequence of the Down syndrome critical region of human chromosome 21, identified by a new 'Alu-splicing PCR' technique, coding for a proline-rich protein (DSCR1) highly expressed in foetal brain and in heart and method for characterizing it

摘要

By means of a new molecular cloning technique designated "Alu-splicing PCR", we have isolated a new gene sequence, DSCR1, located in the 21q22.1-q22.2 region. DSCR1 displays a high expression in brain and heart, coding for a new protein with a proline-rich region and with some structural characteristics typical of a protein involved in transcription and/or in protein-protein interactions. The increase in the transient expression of DSCR1 mRNA in brains of young rats compared with the brains of adult rats suggests an important role of DSCR1 during the development of the central nervous system. The overexpression of pSCR1 may be involved in pathogenic abnormalities of mental retardation and/or heart defects in patients with Down syndrome.