BACs as Tools for the Study of Genomic Imprinting英文文献资料.docVIP

HindawiPublishingCorporation JournalofBiomedicineandBiotechnology Volume2011,ArticleID283013,10pages doi:10.1155/2011/283013 ReviewArticle BACsasToolsfortheStudyofGenomicImprinting S.J.Tunster,M.VanDePette,andR.M.John Cardi?SchoolofBiosciences,Cardi?University,Cardi?CF103AX,UK CorrespondenceshouldbeaddressedtoR.M.John,johnrm@cf.ac.uk Received20May2010;Revised20July2010;Accepted19October2010 AcademicEditor:NoelleE.Cockett Copyright?2011S.J.Tunsteretal.ThisisanopenaccessarticledistributedundertheCreativeCommonsAttributionLicense, whichpermitsunrestricteduse,distribution,andreproductioninanymedium,providedtheoriginalworkisproperlycited. Genomic imprinting in mammals results in the expression of genes from only one parental allele. Imprinting occurs as a consequenceofepigeneticmarkssetdowneitherinthefather’sorthemother’sgermlineanda?ectsaveryspeci?ccategory ofmammaliangene.Agreaterunderstandingofthisdistinctivephenomenoncanbegainedfromstudiesusinglargegenomic clones,calledbacterialarti?cialchromosomes(BACs).Here,wereviewtheimportantapplicationsofBACstoimprintingresearch, covering physical mapping studies and the use of BACs as transgenes in mice to study gene expression patterns, to identify imprintingcentres,andtoisolatetheconsequencesofalteredgenedosage.Wealsohighlightthesigni?cantanduniqueadvantages thatrapidBACengineeringbringstogenomicimprintingresearch. 1.Introduction This work is summarized at /. Imprinted genes within domains are regulated by discrete genomicregionscalledimprintingcentres(ICs)[17].These regions, which can also be referred to as imprint control elements (ICEs) or imprint control regions (ICRs), are functionally de?ned by engineering-targeted deletions in mice [18–32]. Inheritance of an IC deletion through one parentalgermlinereleasesallthegeneswithinthedomain from their imprinted expression (loss of imprinting, LOI) whereas inheritance through the other parent’s germ line generally, but not always, has no consequence. These ICs carry a DNA met