The detailed entries of the Imprinted Gene Catalogue database were created by Benjamin Tycko, Columbia University, New York and are updated by Ian Morison


 

Detailed entry for Gene:

Snrpn

Chromosome:

Human Chr15q12
Mouse Chr7 (central)

Links:

OMIM  MethDB (human)

Imprinting:

The maternal allele of Snrpn is silent; paternal allele active in many fetal and adult tissues, both in mice and humans (Cattanach BM et al, 1992; Glenn CC et al, 1993; Leff SE et al, 1992; Ozcelik T et al, 1992).

Gene Product:

Snrpn encodes an Sm protein, which is a splicing factor component, expressed at highest levels in neurons (Grimaldi K et al, 1993). See also entries for Snurf and MBII genes.

Functional Data:

Like the other Sm proteins, the product of the Snrpn gene is a component of the U snRNPs that function in mRNA splicing and other aspects of RNA metabolism. SmN is thought to substitute for the SmB protein in the Sm heptameric ring that forms the core of snRNPs (Pannone BK et al, 2000). Whether this confers any novel (neuron-specific?) properties to the ring is not yet known. Snrpn knockout mice, in which only the coding-region has been deleted, lack a strong phenotype (Tsai TF et al, 1999; Yang T et al, 1998). As predicted from its localization to the Prader Willi syndrome (PWS) major deleted region and its direction of imprinting, SNRPN is not expressed in PWS tissues (Glenn CC et al, 1993). Micro-deletions in the 5' DNA of the SNRPN gene can cause PWS by acting in cis to abrogate the expression of multiple genes in the Chr15q11-q13 imprinted domain (Buiting K et al, 1995; Saitoh S et al, 1996). This domain effect has been mimicked, both molecularly and in terms of phenotypic consequences, in knockout mouse models (Bielinska B et al, 2000; Yang T et al, 1998). However, in view of the negative data from the Snrpn-specific coding-region knockouts, SNRPN itself is not considered a strong candidate for directly contributing to the PWS phenotype (Yang T et al, 1998).

 

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