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Structure and function correlations at the imprinted mouse Snrpn locus

Content Provider	Springer Nature Link
Author	Gabriel, James M. Gray, Todd A. Stubbs, Lisa Saitoh, Shihji Ohta, Tohru Nicholls, Robert D.
Copyright Year	1998
Abstract	The human SNRPN gene maps within Chromosome (Chr) 15q11-q13, the region responsible for Prader-Willi syndrome (PWS) and Angelman syndrome (AS). As one of several 15q11-q13 transcripts expressed from the paternal allele-only, SNRPN is a candidate gene to explain at least some of the PWS phenotype in human and in genetic mouse models. The promoter and first exon of the SNRPN gene also correspond to an imprinting center element responsible for resetting of the maternal to paternal imprints within 15q11-q13 during spermatogenesis. Through characterization of the imprinted murine Snrpn locus in mouse Chr 7C, we have found that the gene structure is very similar to the human, with ten conserved exons spanning 22 kb, the last seven of which are tightly clustered. The promoter of Snrpn is differentially methylated in ES cells and adult tissues, supporting a role for DNA methylation at this site in somatic establishment and/or maintenance of Snrpn imprinting. The first intron of the mouse and human genes contains structurally conserved G-rich clustered repeats which may play a role in establishing DNA methylation patterns associated with imprinting of this gene. On the basis of the conserved structural and imprinted features of the human SNRPN and mouse Snrpn genes, we suggest that imprinting mechanisms are conserved between human and mouse.
Starting Page	788
Ending Page	793
Page Count	6
File Format	PDF
ISSN	09388990
Journal	Mammalian Genome
Volume Number	9
Issue Number	10
e-ISSN	14321777
Language	English
Publisher	Springer-Verlag
Publisher Date	1998-10-01
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Content Type	Text
Resource Type	Article
Subject	Genetics

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Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus (2005)

Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus (2005)

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Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus

Evidence for translational regulation of the imprinted Snurf-Snrpn locus in mice.

Structure and function correlations at the imprinted mouse Snrpn locus

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