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:

Ndn

Chromosome:

Human Chr15q11-q12
Mouse Chr7 (central)

Links:

OMIM    MethDB (mouse)

Imprinting:

The maternal allele of Ndn is silenced in multiple fetal and adult tisses; paternal allele active (Jay P et al, 1997; MacDonald HR et al, 1997; Sutcliffe JS et al, 1997; Watrin F et al, 1997).

Gene Product:

Ndn encodes a nuclear protein, necdin, which shows neuron-specific expression in adults (Aizawa T et al, 1992; Maruyama K et al, 1991; Uetsuki T et al, 1996).

Functional Data:

Necdin protein is anti-proliferative in cell transfections (Hayashi Y et al, 1995). It was reported to bind p53 and other cell-cycle related proteins such as E2F1; possibly allowing post-mitotic neuronal survival by preventing p53-mediated apoptosis (Taniura H et al, 1998). Early post-natal lethality was observed in mice with deletion of the paternal allele (Gerard M et al, 1999), but viability was seen in another similar knockout strain (Tsai TF et al, 1999); a third study found variable early post-natal lethality, a small but significant decrease in the number of hypothalamic neurons and abnormal behaviour (Muscatelli F et al, 2000). Prader-Willi syndrome (PWS) maps to the imprinted domain that contains NDN, and expression of NDN is absent from PWS brains, as well as from tissues of a mouse model for PWS imprinting mutations (MacDonald HR et al, 1997; Bielinska B et al, 2000). Based on the data from mouse models, it is thought that NDN may directly contribute to some aspects of the PWS phenotype (Nicholls RD, 1999).

 

Click here to search again.

Return to the Imprinted Gene Catalogue home page.