title: Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome.
abstract: We have isolated two genes on the human sex chromosomes, one on the Y and one on the X, that appear to encode isoforms of ribosomal protein S4. These predicted RPS4Y and RPS4X proteins differ at 19 of 263 amino acids. Both genes are widely transcribed in human tissues, suggesting that the ribosomes of human males and females are structurally distinct. Transcription analysis revealed that, unlike most genes on the X chromosome, RPS4X is not dosage compensated. RPS4X maps to the long arm of the X chromosome (Xq), where no other genes are known to escape X inactivation. Curiously, RPS4X maps near the site from which the X-inactivating signal is thought to emanate. On the Y chromosome, RPS4Y maps to a 90 kb segment that has been implicated in Turner syndrome. We consider the possible role of RPS4 haploinsufficiency in the etiology of the Turner phenotype.
authors: Howard Hughes Research Laboratories, Whitehead Institute for Biomedical Research, Cambridge, Massachusetts 02142.
authors: E M
authors: EM
authors: Fisher
authors: P
authors: P
authors: Beer-Romero
authors: L G
authors: LG
authors: Brown
authors: A
authors: A
authors: Ridley
authors: J A
authors: JA
authors: McNeil
authors: J B
authors: JB
authors: Lawrence
authors: H F
authors: HF
authors: Willard
authors: F R
authors: FR
authors: Bieber
authors: D C
authors: DC
authors: Page
mesh_terms: D000595:Amino Acid Sequence; D001105:Archaea / Q000235:genetics; D001483:Base Sequence; D002478:Cells, Cultured; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D005796:Genes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009634:Noonan Syndrome / Q000235:genetics*; D015345:Oligonucleotide Probes; D010957:Plasmids; D012269:Ribosomal Proteins / Q000235:genetics*; D012689:Sequence Homology, Nucleic Acid; D012984:Software; D014158:Transcription, Genetic; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D015345:Oligonucleotide Probes; D012269:Ribosomal Proteins; C031798:ribosomal protein S4; D004247:DNA