title: Molecular analysis of TBL1Y, a Y-linked homologue of TBL1X related with X-linked late-onset sensorineural deafness.
abstract: Recent progress in sequencing the human Y chromosome has unveiled a series of X-Y homologous genes. In the present study, we focused on Transducin beta-like 1Y (TBL1Y), which is a Y-linked homologue of TBL1X that is related with X-linked late-onset sensorineural deafness. Recently, it has been shown that TBLR1, another homologue whose gene resides on chromosome 3, and TBL1X act as a corepressor/coactivator exchanger for several nuclear receptors and transcription factors. However, the expression pattern and function of TBL1Y remain unknown. The RT-PCR analysis of the TBL1 family revealed that TBL1Y was expressed in all 13 tissues examined but not in leukocytes. Among the cell lines tested, however, it was only expressed in NT2/D1 cells and in lymphoblasts transformed with Epstein Barr (EB) virus. To compare the functions of the TBL1 family, we generated a series of expression plasmids for GAL4DBD-fused proteins of the TBL1 family. We carried out dual luciferase assays using these plasmids in combination with a plasmid having a luciferase reporter gene harboring 5xGAL4 binding sites. Unlike the other constructs, GAL4DBD-fused TBL1Y did not repress the promoter activity. Moreover, we found three novel polymorphisms in the TBL1Y gene, IVS7+9G>A, G268C, and IVS7+1G>C, which is presumed to cause splicing error. These polymorphisms are found in males within Y-haplogroup O3 (XO3e), which is defined as the Y-haplogroup O3 excluding O3e, a branch of O3. The results show that TBL1Y differs from other members of the TBL1 family in expression and function, suggesting other roles in maleness.
authors.affiliation: Department of Human Genetics and Public Health, Faculty of Medicine, Graduate School of Proteomics, The University of Tokushima, 3-18-15 Kuramoto-cho, Tokushima, 770-8503, Japan.|Core Research for Evolutional Science and Technology Corporation (CREST), 4-1-8 Honcho, Kawaguchi, Saitama, 332-0012, Japan.|The Researcher of Graduate School of Medical Sciences for 'Disease Proteomics for Multifactorial Disorder', 21st Century Center for Excellence (COE)Program. , University of Tokushima, 3-18-15 Kuramoto-cho, Tokushima 770-8503, Japan.
authors.forename: Hong-Tao
authors.initials: HT
authors.lastname: Yan
authors.affiliation: Department of Human Genetics and Public Health, Faculty of Medicine, Graduate School of Proteomics, The University of Tokushima, 3-18-15 Kuramoto-cho, Tokushima, 770-8503, Japan.|Core Research for Evolutional Science and Technology Corporation (CREST), 4-1-8 Honcho, Kawaguchi, Saitama, 332-0012, Japan.
authors.forename: Toshikatsu
authors.initials: T
authors.lastname: Shinka
authors.affiliation: Department of Human Genetics and Public Health, Faculty of Medicine, Graduate School of Proteomics, The University of Tokushima, 3-18-15 Kuramoto-cho, Tokushima, 770-8503, Japan.|Core Research for Evolutional Science and Technology Corporation (CREST), 4-1-8 Honcho, Kawaguchi, Saitama, 332-0012, Japan.
authors.forename: Keigo
authors.initials: K
authors.lastname: Kinoshita
authors.affiliation: Department of Human Genetics and Public Health, Faculty of Medicine, Graduate School of Proteomics, The University of Tokushima, 3-18-15 Kuramoto-cho, Tokushima, 770-8503, Japan.|Core Research for Evolutional Science and Technology Corporation (CREST), 4-1-8 Honcho, Kawaguchi, Saitama, 332-0012, Japan.
authors.forename: Youichi
authors.initials: Y
authors.lastname: Sato
authors.affiliation: Department of Human Genetics and Public Health, Faculty of Medicine, Graduate School of Proteomics, The University of Tokushima, 3-18-15 Kuramoto-cho, Tokushima, 770-8503, Japan.|Core Research for Evolutional Science and Technology Corporation (CREST), 4-1-8 Honcho, Kawaguchi, Saitama, 332-0012, Japan.
authors.forename: Mayumi
authors.initials: M
authors.lastname: Umeno
authors.affiliation: Department of Human Genetics and Public Health, Faculty of Medicine, Graduate School of Proteomics, The University of Tokushima, 3-18-15 Kuramoto-cho, Tokushima, 770-8503, Japan.|Core Research for Evolutional Science and Technology Corporation (CREST), 4-1-8 Honcho, Kawaguchi, Saitama, 332-0012, Japan.
authors.forename: Gang
authors.initials: G
authors.lastname: Chen
authors.affiliation: Department of Human Genetics and Public Health, Faculty of Medicine, Graduate School of Proteomics, The University of Tokushima, 3-18-15 Kuramoto-cho, Tokushima, 770-8503, Japan.|Core Research for Evolutional Science and Technology Corporation (CREST), 4-1-8 Honcho, Kawaguchi, Saitama, 332-0012, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Tsuji
authors.affiliation: Department of Human Genetics and Public Health, Faculty of Medicine, Graduate School of Proteomics, The University of Tokushima, 3-18-15 Kuramoto-cho, Tokushima, 770-8503, Japan.|Core Research for Evolutional Science and Technology Corporation (CREST), 4-1-8 Honcho, Kawaguchi, Saitama, 332-0012, Japan.
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Unemi
authors.affiliation: Department of Human Genetics and Public Health, Faculty of Medicine, Graduate School of Proteomics, The University of Tokushima, 3-18-15 Kuramoto-cho, Tokushima, 770-8503, Japan.|Core Research for Evolutional Science and Technology Corporation (CREST), 4-1-8 Honcho, Kawaguchi, Saitama, 332-0012, Japan.
authors.forename: Xin-Jun
authors.initials: XJ
authors.lastname: Yang
authors.affiliation: Department of Urology, School of Medicine, St. Marianna Medical University, 2-16-1 Sugao, Miyamae, Kawasaki, 216-8511, Japan.|Core Research for Evolutional Science and Technology Corporation (CREST), 4-1-8 Honcho, Kawaguchi, Saitama, 332-0012, Japan.
authors.forename: Teruaki
authors.initials: T
authors.lastname: Iwamoto
authors.affiliation: Department of Human Genetics and Public Health, Faculty of Medicine, Graduate School of Proteomics, The University of Tokushima, 3-18-15 Kuramoto-cho, Tokushima, 770-8503, Japan. nakahori@basic.med.tokushima-u.ac.jp.|Core Research for Evolutional Science and Technology Corporation (CREST), 4-1-8 Honcho, Kawaguchi, Saitama, 332-0012, Japan. nakahori@basic.med.tokushima-u.ac.jp.
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Nakahori
mesh_terms: D017668:Age of Onset; D000595:Amino Acid Sequence; D041321:Chromosomes, Human, X / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008156:Luciferases / Q000378:metabolism; D008297:Male; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics; D011993:Recombinant Fusion Proteins / Q000235:genetics / Q000378:metabolism; D017386:Sequence Homology, Amino Acid; D015293:Transducin / Q000235:genetics*
chemical_list: D011993:Recombinant Fusion Proteins; C119542:TBL1X protein, human; C485612:TBL1Y protein, human; D008156:Luciferases; D015293:Transducin