Gene: [15q1/NDN] necdin (mouse) homolog;
|
COM |
Jay et al. suggested that NDN is located approximately 100 kb distal to ZNF127 and 1-1.5 Mb proximal to SNRPN. They demonstrated that NDN-homologous gene or pseudogene maps to Chr 12q21 (Jay-1997)." |
|
GEN |
Consistent with the observation that imprinted genes have few and small introns (Hurst-1996), human NDN is contained within a single exon, like its mouse ortholog (MacDonald-1997)." |
|
EXP |
[1] The necdin protein is localized to the nuclei of postmitotic neurons,
and is expressed in almost all postmitotic neurons in the CNS from the
beginning of neural differentitation and into adult life.
[2] Expression of the NDN human gene (and Ndn mouse gene) is limited to the paternal allele, with highest levels of expression in brain and placenta (MacDonald-1997). NDN displayed such characteristics of an imprinted locus as allelic DNA methylation and asychronous DNA replication (Jay-1997). [3] Jay et al. found a complete lack of NDN expression in brain and fibroblasts from Prader-Willi syndrome patients (GEM:15q1/PWCR), indicating that the gene is expressed exclusively from the paternal allele in these tissues and suggesting a possible role of this gene in PWS (Jay-1997)." |
|
PAT |
It is suggested that loss of necdin gene expression may contribute to the disorder of brain development." |
|
REF |
GEN,EXP "Hurst LD &: Nature Genet, 12, 234-237, 1996 LOC,SEQ,EXP "Jay P &: Nature Genet, 17, 357-360, 1997 GEN,SEQ "MacDonald HR, Wevrick R: Hum Mol Genet, 6, 1873-1878, 1997 |
|
KEY |
neu |
|
CLA |
coding, basic |
|
LOC |
15 q11-12 |
|
MIM |
MIM: 602117 |
