The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.

The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.

Date of Patent:
Feb. 09, 1999

Filed:

Jun. 07, 1996
Applicant:
Inventors:

Xavier Estivill Palleja, 08029 Barcelona, ES;

Juan Jose Fuentes, Barcelona, ES;

Melanie Pritchard, Barcelona, ES;

Assignee:

Other;

Attorney:
Primary Examiner:
Int. Cl.
CPC ...
C12N / ; C12N / ; C12N / ; C07H / ;
U.S. Cl.
CPC ...
4352523 ; 536 235 ; 4353201 ; 435325 ; 935 77 ; 935 78 ;
Abstract

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.


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