Disease relevance of PIGP

• Both DSCR5 and DSCR6 genes are candidates for the pathogenesis of Down syndrome, although the function of these genes remains to be elucidated [1].

High impact information on PIGP

• Molecular cloning and characterization of a gene expressed in mouse developing tongue, mDscr5 gene, a homolog of human DSCR5 (Down syndrome Critical Region gene 5) [2].
• 2. Recently we have determined 33.5 Mb (more than 99%) of DNA sequence of Chr 21 and, from these sequence data, we identified a novel gene, DSCR5 (transcript = 0.8 kb), from DSCR by combination of computational gene prediction and cDNA screening [2].
• The DSCR5 gene is expressed in various human tissues examined, whereas the DSCR6 gene is expressed only in limited tissues at low level [1].
• DSCR5 and DSCR6 genes consist of 6 and 5 exons, respectively [1].
• The reversal potential for the synaptic potentials (PSP) produced in CPB3b by DSRC stimulation is depolarized relative to the normal membrane potential at lower temperature [3].

Biological context of PIGP

• Overexpression of PIG-P (DSCR5) may lead to or represent impaired glycosylphosphatidylinositol- N-acetylglucosaminyltransferase mediated posttranslational modifications and subsequent anchoring of proteins to the plasma membrane [4].
• Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21q22.2 [1].
• We determined the sequences of expressed sequence tags (ESTs) that almost matched the predicted cDNA sequence of DSCR5 [5].
• A novel gene, DSCR5, from the distal Down syndrome critical region on chromosome 21q22.2 [5].

Anatomical context of PIGP

• Northern blot analysis showed that DSCR5 is expressed in several tissues including the liver, skeletal muscle, heart, pancreas and testis [5].

Other interactions of PIGP

• Blood collected in ACD was supplemented with PIGP solution or PIGPA solution [6].
• To determine the 5'-end of DSCR5, the oligo-capping method was employed [5].

References