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Publication : Sequence and comparative analysis of the mouse 1-megabase region orthologous to the human 11p15 imprinted domain.

First Author  Onyango P Year  2000
Journal  Genome Res Volume  10
Issue  11 Pages  1697-710
PubMed ID  11076855 Mgi Jnum  J:65742
Mgi Id  MGI:1927251 Doi  10.1101/gr.161800
Citation  Onyango P, et al. (2000) Sequence and comparative analysis of the mouse 1-megabase region orthologous to the human 11p15 imprinted domain. Genome Res 10(11):1697-710
abstractText  A major barrier to conceptual advances in understanding the mechanisms and regulation of imprinting of a genomic region is our relatively poor understanding of the overall organization of genes and of the potentially important cis-acting regulatory sequences that lie in the nonexonic segments that make up 97% of the genome. Interspecies sequence comparison offers an effective approach to identify sequence from conserved functional elements. In this article we describe the successful use of this approach in comparing a approximately 1-Mb imprinted genomic domain on mouse chromosome 7 to its orthologous region on human 11p15.5. Within the region, we identified 112 exons of known genes as well as a novel gene identified uniquely in the mouse region, termed Msuit, that was found to be imprinted. In addition to these coding elements, we identified 33 CpG islands and 49 orthologous nonexonic, nonisland sequences that met our criteria as being conserved, and making up 4. 1% of the total sequence. These conserved noncoding sequence elements were generally clustered near imprinted genes and the majority were between Igf2 and H19 or within Kvlqt1. Finally, the location of CpG islands provided evidence that suggested a two-island rule for imprinted genes. This study provides the first global view of the architecture of an entire imprinted domain and provides candidate sequence elements for subsequent functional analyses. [The sequence data described in this paper have been submitted to the GenBank data library under accession nos. AF313042 to AF313150.]
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