title: Inactivation of the Rps4 gene on the mouse X chromosome.
abstract: The human RPS4X and RPS4Y genes, located on the X and Y chromosomes, appear to encode isoforms of ribosomal protein S4. Haploinsufficiency of these genes may contribute to the human phenotype known as Turner syndrome. Although RPS4X maps near the X-inactivation center, the gene is expressed on inactive human X chromosomes. We cloned Rps4, the mouse homolog of RPS4X. Exploiting allelic variation in Rps4, we examined transcription of the gene from active and inactive mouse X chromosomes in vivo, in female mice carrying an X-autosome translocation. We report that mouse Rps4, unlike human RPS4X, is subject to X inactivation. This finding may explain, at least in part, why the phenotypic consequences of X monosomy are less severe in mice than in humans.
authors.affiliation: Howard Hughes Research Laboratories, Whitehead Institute, Cambridge, Massachusetts.
authors.forename: A R
authors.initials: AR
authors.lastname: Zinn
authors.forename: S L
authors.initials: SL
authors.lastname: Bressler
authors.forename: P
authors.initials: P
authors.lastname: Beer-Romero
authors.forename: D A
authors.initials: DA
authors.lastname: Adler
authors.forename: V M
authors.initials: VM
authors.lastname: Chapman
authors.forename: D C
authors.initials: DC
authors.lastname: Page
authors.forename: C M
authors.initials: CM
authors.lastname: Disteche
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D003001:Cloning, Molecular; D004247:DNA; D004303:Dosage Compensation, Genetic; D005260:Female; D005786:Gene Expression Regulation; D014644:Genetic Variation; D006801:Humans; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012269:Ribosomal Proteins / Q000235:genetics*; D014178:Translocation, Genetic; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D012269:Ribosomal Proteins; C031798:ribosomal protein S4; D004247:DNA