title: Sequence-based structural features between Kvlqt1 and Tapa1 on mouse chromosome 7F4/F5 corresponding to the Beckwith-Wiedemann syndrome region on human 11p15.5: long-stretches of unusually well conserved intronic sequences of kvlqt1 between mouse and human.
abstract: Mouse chromosome 7F4/F5 is a syntenic locus of human 11p15.5 in which many imprinted genes are clustered. Transmission of aberrant human 11p15.5 or duplicated 11p causes Beckwith-Wiedemann syndrome (BWS) depending on which parent the chromosome is derived from. To analyze a syntenic mouse locus corresponding to human 11p15.5, mouse BAC contigs were constructed between Nap2 and Tapa1, in which 390 kb was sequenced between Kvlqt1 and Tapa1. An unexpected finding was that of highly conserved intronic sequences of Kvlqt1 between mouse and human, and their homologies came up to at least 160 kb because the length of this gene extended to 350 kb, suggesting the possibility of some functional constraint due to transcriptional and/or post-transcriptional regulation of this region. Many expressed sequence tags (ESTs) were mapped on this locus. Three genes, Lit1 (Kvlqt1-AS), Mtr1 and Tssc4, were identified and characterized. Lit1 is an antisense-transcript of Kvlqt1 and paternally expressed and maternally methylated throughout the developmental stage. The position where Lit1 exists corresponded to a highly conserved region between mouse and human. This transcript extends at least 60 kb from downstream to upstream of exon 10 in Kvlqt1. Tssc4 and Mtr1 carried putative open reading frames but neither was imprinted. Further characterization of this locus based on the sequence comparison between mouse and human will contribute valuable information towards resolving the mechanism of the occurrence of BWS and the associated childhood tumor.
authors.affiliation: Department of Biochemistry, Saga Medical School, Saga, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Yatsuki
authors.forename: H
authors.initials: H
authors.lastname: Watanabe
authors.forename: M
authors.initials: M
authors.lastname: Hattori
authors.forename: K
authors.initials: K
authors.lastname: Joh
authors.forename: H
authors.initials: H
authors.lastname: Soejima
authors.forename: H
authors.initials: H
authors.lastname: Komoda
authors.forename: Z
authors.initials: Z
authors.lastname: Xin
authors.forename: X
authors.initials: X
authors.lastname: Zhu
authors.forename: K
authors.initials: K
authors.lastname: Higashimoto
authors.forename: M
authors.initials: M
authors.lastname: Nishimura
authors.forename: S
authors.initials: S
authors.lastname: Kuratomi
authors.forename: H
authors.initials: H
authors.lastname: Sasaki
authors.forename: Y
authors.initials: Y
authors.lastname: Sakaki
authors.forename: T
authors.initials: T
authors.lastname: Mukai
mesh_terms: D000483:Alleles; D000818:Animals; D015703:Antigens, CD / Q000235:genetics*; D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics*; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D020451:Contig Mapping; D018899:CpG Islands; D004247:DNA / Q000378:metabolism; D019175:DNA Methylation; D005260:Female; D015723:Gene Library; D016147:Genes, Tumor Suppressor; D005838:Genotype; D006801:Humans; D007438:Introns; D051656:KCNQ Potassium Channels; D051657:KCNQ1 Potassium Channel; D008297:Male; D008565:Membrane Proteins / Q000096:biosynthesis / Q000235:genetics; D051379:Mice; D008810:Mice, Inbred C57BL; D008957:Models, Genetic; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D015221:Potassium Channels / Q000096:biosynthesis / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated; D014176:Protein Biosynthesis; D011506:Proteins / Q000235:genetics; D012313:RNA / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012737:Sex Factors; D050053:TRPM Cation Channels; D060225:Tetraspanin 28; D014018:Tissue Distribution; D014178:Translocation, Genetic; D025521:Tumor Suppressor Proteins
chemical_list: D015703:Antigens, CD; C554798:CD81 protein, human; C554799:Cd81 protein, mouse; D051656:KCNQ Potassium Channels; D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human; C485621:KCNQ1OT1 long non-coding RNA, human; C496910:Kcnq1 protein, mouse; D008565:Membrane Proteins; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; D011506:Proteins; D050053:TRPM Cation Channels; C404409:TRPM5 protein, human; C118513:TSSC4 protein, human; D060225:Tetraspanin 28; C498617:Trpm5 protein, mouse; D025521:Tumor Suppressor Proteins; D012313:RNA; D004247:DNA