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Palleja, Zavier Estivell

Xavier Estivill Palleja

Melanie April Pritchard

Marga Nadal

Miguel Angel Pujana

Jordi Guimera Vilaro

Victor Volpini

Monica Gratacos

Juan Jose Fuentes

An isolated human Down Syndrome critical region (MNB) DNA sequence having the nucleotide sequence depicted in SEQ ID NO:1; vector including the human Down Syndrome critical region (MNB) sequence; and isolated host cells containing the vector are provided.

Human gene sequence of the down syndrome critical region of human chromosome 21, coding for a serine-threonine protein kinase (MNB), expressed in the neuronal regions affected in down syndrome

A method for identifying a person at risk for developing an anxiety disorder, said anxiety disorder selected from the group consisting of agoraphobia, social phobia, panic attacks, panic disorders, simple phobia, mood disorders, major depression, schizophrenia, and hypermobility syndrome associated with duplication of a region of the genomic sequence of human chromosome 15q24-25 defined by boundaries D15S925 (proximal end) and DS15S736 (distal end). The method comprises identifying the presence of duplication in the region of the genomic sequence of human chromosome 15q24-25 defined by the boundaries D15S925 (proximal end) and DS15S736 (distal end) in said person.

Duplications of human chromosome 15q24-25 and anxiety disorders, diagnostic methods for their detection

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.

Gene sequence of the Down syndrome critical region of human chromosome

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Barcelona, Spain

Xavier Estivill Palleja