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Gene Review:

MAGEL2 - MAGE-like 2

Homo sapiens

Synonyms: MAGE-like protein 2, NDNL1, Necdin-like protein 1, PWLS, Protein nM15, ...

Lee, S. et al., O'Neill, M.A. et al., Sun, B.W. et al., Rogan, P.K. et al., Boccaccio, I. et al., et al.

Rogan, Cazcarro, Knoll,

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Disease relevance of MAGEL2

Expression and imprinting of MAGEL2 suggest a role in Prader-willi syndrome and the homologous murine imprinting phenotype [1].
We conclude that severe childhood-onset obesity is not commonly caused by MAGEL2 mutations [2].

High impact information on MAGEL2

More importantly, with the availability of maternal peripheral blood lymphocyte sample, we demonstrated that the maternal expression of KCNQ1 and the paternal expression of NDNL1 and PEG10 were maintained in SHhES1 cells [3].
MAGEL2 is imprinted with monoallelic expression in control brain, and paternal-only expression in the central nervous system as demonstrated by its lack of expression in brain from a PWS-affected individual [1].
MAGEL2 is expressed predominantly in brain, the primary tissue affected in PWS and in several fetal tissues as shown by northern blot analysis [1].
We developed single-copy probes for three chromosomal regions-the CDC2L1 (chromosome 1p36), MAGEL2 (chromosome 15q11.2), and HIRA (chromosome 22q11.2) genes-and show their utility for FISH [4].
The necdin and MAGEL2 genes are subjected to genomic imprinting and suggested to be involved in the etiology of Prader-Willi syndrome [5].

Biological context of MAGEL2

We screened the MAGEL2 open reading frame for mutations in genomic DNA samples from hyperphagic but non-dysmorphic individuals with severe childhood-onset obesity [2].

Anatomical context of MAGEL2

Murine Magel2 is highly expressed in the hypothalamus during development [2].

Other interactions of MAGEL2

C15orf2 is an intronless gene located between MAGEL2 and SNURF-SNRPN [6].

Analytical, diagnostic and therapeutic context of MAGEL2

By northern blot analysis we did not detect any expression of MAGEL2 / Magel2 but by RT-PCR analysis, specific expression was detected in fetal and adult brain and in placenta [7].
Magel2 distribution partially overlaps that of NDN:, with strong expression being detected in the central nervous system in mid-gestation mouse embryos by in situ hybridization [1].

References

Expression and imprinting of MAGEL2 suggest a role in Prader-willi syndrome and the homologous murine imprinting phenotype. Lee, S., Kozlov, S., Hernandez, L., Chamberlain, S.J., Brannan, C.I., Stewart, C.L., Wevrick, R. Hum. Mol. Genet. (2000) [Pubmed]
Evaluation of Prader-Willi Syndrome gene MAGEL2 in severe childhood-onset obesity. O'Neill, M.A., Farooqi, I.S., Wevrick, R. Obes. Res. (2005) [Pubmed]
Temporal and parental-specific expression of imprinted genes in a newly derived Chinese human embryonic stem cell line and embryoid bodies. Sun, B.W., Yang, A.C., Feng, Y., Sun, Y.J., Zhu, Y., Zhang, Y., Jiang, H., Li, C.L., Gao, F.R., Zhang, Z.H., Wang, W.C., Kong, X.Y., Jin, G., Fu, S.J., Jin, Y. Hum. Mol. Genet. (2006) [Pubmed]
Sequence-based design of single-copy genomic DNA probes for fluorescence in situ hybridization. Rogan, P.K., Cazcarro, P.M., Knoll, J.H. Genome Res. (2001) [Pubmed]
Necdin-related MAGE proteins differentially interact with the E2F1 transcription factor and the p75 neurotrophin receptor. Kuwako, K., Taniura, H., Yoshikawa, K. J. Biol. Chem. (2004) [Pubmed]
Identification of a testis-specific gene (C15orf2) in the Prader-Willi syndrome region on chromosome 15. Färber, C., Gross, S., Neesen, J., Buiting, K., Horsthemke, B. Genomics (2000) [Pubmed]
The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region. Boccaccio, I., Glatt-Deeley, H., Watrin, F., Roëckel, N., Lalande, M., Muscatelli, F. Hum. Mol. Genet. (1999) [Pubmed]

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