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《A 1.1-Mb Transcript Map of the HereditaryHemochromatosis Locus遗传基因1.1-MB转录图 血色素沉着症基因座》由会员上传分享，免费在线阅读，更多相关内容在学术论文-天天文库。
1、Downloadedfromgenome.cshlp.orgonAugust12,2018-PublishedbyColdSpringHarborLaboratoryPressRESEARCHA1.1-MbTranscriptMapoftheHereditaryHemochromatosisLocus11,31,3DavidA.Ruddy,GregoryS.Kronmal,VincentK.Lee,111GabrielA.Mintier,LeahQuintana,RodolfoDomingo,J
2、r.,1111NicoleC.Meyer,AliveluIrrinki,ErinE.McClelland,AmyFullan,111FelipaA.Mapa,TheodoreMoore,WinstonThomas,1211DeborahB.Loeb,CyrusHarmon,ZentaTsuchihashi,RogerK.Wolff,11,4RandallC.Schatzman,andJohnN.Feder12MercatorGenetics,MenloPark,California94025;D
3、epartmentofMolecularandCellBiology,UniversityofCalifornia,Berkeley,Berkeley,California94720USAIntheprocessofpositionallycloningacandidategeneresponsibleforhereditaryhemochromatosis(HH),weconstructeda1.1-Mbtranscriptmapoftheregionofhumanchromosome6pth
4、atlies4.5MbtelomerictoHLA-A.Acombinationofthreegene-findingtechniques,directcDNAselection,exontrapping,andsamplesequencing,wereusedinitiallyforasaturationscreeningofthe1.1-Mbregionforexpressedsequencefragments.AsgeneticanalysisfurthernarrowedtheHHcan
5、didatelocus,wesequencedcompletely0.25MbofgenomicDNAasafinalmeasuretoidentifyallgenes.BesidesthenovelMHCclass1-likeHHcandidategeneHLA-H,weidentifiedafamilyoffivebutyrophilin-relatedsequences,twogeneswithstructuralsimilaritytoatype1sodiumphosphatetrans
6、porter,12novelhistonegenes,andagenewenamedRoRetbasedonitsstrongsimilaritytothe52-kDRo/SSAlupusandSjogren'ssyndromeauto-antigenandtheRETfingerprotein.SeveralmembersofthebutyrophilinfamilyandtheRoRetgeneshareanexonofcommonevolutionaryorigincalledB30-2.
7、TheB30-2exonwasoriginallyisolatedfromtheHLAclass1region,yethasapparently``shuffled''intoseveralgenesalongthechromosometelomerictotheMHC.TheconservationoftheB30-2exoninseveralnovelgenesandthepreviouslydescribedaminoacidhomologyofHLA-HtoMHCclass1molecu
8、lesprovidefurthersupportthatthisgene-richregionof6p21.3isrelatedtotheMHC.Finally,weperformedananalysisofthefourapproachesforgenefindingandconcludethatdirectselectionprovidesthemosteffectiveprobesforcDNAscreening,andthatasmuchas30%ofESTsinthis1.1-Mbre
