title: Genomic organization of the region spanning D14Mit262 and D14Mit86 on mouse chromosome 14 and exclusion of Adam28 and Adamdec1 as the cataract-causing gene, lr2.
abstract: Mice with recessive cataract, CXSD, show the first clinical symptoms of cataract at five weeks, with complete penetrance. We previously localized the cataract-causing lens rupture 2 gene (lr2) to mouse chromosome 14. In the process of positional cloning of the lr2 gene, we determined the genomic organization of the critical region, defined by D14Mit262 and D14Mit86, and compared it to recently published map information. In addition, mutational analysis using reverse transcription polymerase chain reaction (RT-PCR) followed by direct sequencing as well as quantitative realtime PCR (RQ-PCR) was performed to investigate Adam28 and Adamdec1 as lr2 candidate genes in this study. There was no mutation cosegregating with the phenotype of CXSD mice, which excluded these genes as the lr2 gene. Identification of more transcripts from this region and their mutation analyses are required to isolate the lr2 gene.
authors.affiliation: Research Institute of Molecular Genetics, the Catholic University of Korea, Seoul, Korea.
authors.forename: E
authors.initials: E
authors.lastname: Kim
authors.forename: S D
authors.initials: SD
authors.lastname: Rhee
authors.forename: Y
authors.initials: Y
authors.lastname: Bae
authors.forename: M
authors.initials: M
authors.lastname: Okumoto
authors.forename: J-B
authors.initials: JB
authors.lastname: Yoon
authors.forename: C-W
authors.initials: CW
authors.lastname: Song
authors.forename: S K
authors.initials: SK
authors.lastname: Yoon
mesh_terms: D051722:ADAM Proteins / Q000235:genetics*; D000818:Animals; D002386:Cataract / Q000235:genetics*; D002874:Chromosome Mapping / Q000379:methods*; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D005786:Gene Expression Regulation; D005796:Genes / Q000235:genetics* / Q000502:physiology; D016678:Genome; D051379:Mice; D008957:Models, Genetic; D010641:Phenotype; D012333:RNA, Messenger / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016324:Sequence Tagged Sites
chemical_list: D017931:DNA Primers; D012333:RNA, Messenger; D051722:ADAM Proteins; C472807:Adam32 protein, mouse