Homologous ribosomal protein genes on the human X and Y chromosomes: Escape from X inactivation and possible implications for turner syndrome
Identifieur interne : 00DB26 ( Main/Exploration ); précédent : 00DB25; suivant : 00DB27Homologous ribosomal protein genes on the human X and Y chromosomes: Escape from X inactivation and possible implications for turner syndrome
Auteurs : Elizabeth M. C. Fisher [États-Unis, Royaume-Uni] ; Peggy Beer-Romero [États-Unis] ; Laura G. Brown [États-Unis] ; Anne Ridley [États-Unis] ; John A. Mcneil [États-Unis] ; Jeanne Bentley Lawrence [États-Unis] ; Huntington F. Willard [États-Unis] ; Frederick R. Bieber [États-Unis] ; David C. Page [États-Unis]Source :
- Cell [ 0092-8674 ] ; 1990.
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.
Url:
DOI: 10.1016/0092-8674(90)90416-C
Affiliations:
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Brown</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Howard Hughes Research Laboratories Whitehead Institute for Biomedical Research Nine Cambridge Center Cambridge</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Department of Biology Massachusetts Institute of Technology Cambridge</wicri:cityArea></affiliation></author><author><name sortKey="Ridley, Anne" sort="Ridley, Anne" uniqKey="Ridley A" first="Anne" last="Ridley">Anne Ridley</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Howard Hughes Research Laboratories Whitehead Institute for Biomedical Research Nine Cambridge Center Cambridge</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Department of Biology Massachusetts Institute of Technology Cambridge</wicri:cityArea></affiliation></author><author><name sortKey="Mcneil, John A" sort="Mcneil, John A" uniqKey="Mcneil J" first="John A." last="Mcneil">John A. Mcneil</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Department of Cell Biology University of Massachusetts Medical School Worcester</wicri:cityArea></affiliation></author><author><name sortKey="Lawrence, Jeanne Bentley" sort="Lawrence, Jeanne Bentley" uniqKey="Lawrence J" first="Jeanne Bentley" last="Lawrence">Jeanne Bentley Lawrence</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Department of Cell Biology University of Massachusetts Medical School Worcester</wicri:cityArea></affiliation></author><author><name sortKey="Willard, Huntington F" sort="Willard, Huntington F" uniqKey="Willard H" first="Huntington F." last="Willard">Huntington F. Willard</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Department of Genetics Stanford University Stanford</wicri:cityArea></affiliation></author><author><name sortKey="Bieber, Frederick R" sort="Bieber, Frederick R" uniqKey="Bieber F" first="Frederick R." last="Bieber">Frederick R. Bieber</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Departments of Pathology Brigham and Women's Hospital and Harvard Medical School 75 Francis Street Boston</wicri:cityArea></affiliation></author><author><name sortKey="Page, David C" sort="Page, David C" uniqKey="Page D" first="David C." last="Page">David C. Page</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Howard Hughes Research Laboratories Whitehead Institute for Biomedical Research Nine Cambridge Center Cambridge</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Department of Biology Massachusetts Institute of Technology Cambridge</wicri:cityArea></affiliation></author></analytic><monogr></monogr><series><title level="j">Cell</title><title level="j" type="abbrev">CELL</title><idno type="ISSN">0092-8674</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1990">1990</date><biblScope unit="volume">63</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="1205">1205</biblScope><biblScope unit="page" to="1218">1218</biblScope></imprint><idno type="ISSN">0092-8674</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0092-8674</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Californie</li><li>Massachusetts</li></region></list><tree><country name="États-Unis"><region name="Massachusetts"><name sortKey="Fisher, Elizabeth M C" sort="Fisher, Elizabeth M C" uniqKey="Fisher E" first="Elizabeth M. C." last="Fisher">Elizabeth M. C. Fisher</name></region><name sortKey="Beer Romero, Peggy" sort="Beer Romero, Peggy" uniqKey="Beer Romero P" first="Peggy" last="Beer-Romero">Peggy Beer-Romero</name><name sortKey="Beer Romero, Peggy" sort="Beer Romero, Peggy" uniqKey="Beer Romero P" first="Peggy" last="Beer-Romero">Peggy Beer-Romero</name><name sortKey="Bieber, Frederick R" sort="Bieber, Frederick R" uniqKey="Bieber F" first="Frederick R." last="Bieber">Frederick R. Bieber</name><name sortKey="Brown, Laura G" sort="Brown, Laura G" uniqKey="Brown L" first="Laura G." last="Brown">Laura G. Brown</name><name sortKey="Brown, Laura G" sort="Brown, Laura G" uniqKey="Brown L" first="Laura G." last="Brown">Laura G. Brown</name><name sortKey="Fisher, Elizabeth M C" sort="Fisher, Elizabeth M C" uniqKey="Fisher E" first="Elizabeth M. C." last="Fisher">Elizabeth M. C. Fisher</name><name sortKey="Lawrence, Jeanne Bentley" sort="Lawrence, Jeanne Bentley" uniqKey="Lawrence J" first="Jeanne Bentley" last="Lawrence">Jeanne Bentley Lawrence</name><name sortKey="Mcneil, John A" sort="Mcneil, John A" uniqKey="Mcneil J" first="John A." last="Mcneil">John A. Mcneil</name><name sortKey="Page, David C" sort="Page, David C" uniqKey="Page D" first="David C." last="Page">David C. Page</name><name sortKey="Page, David C" sort="Page, David C" uniqKey="Page D" first="David C." last="Page">David C. Page</name><name sortKey="Ridley, Anne" sort="Ridley, Anne" uniqKey="Ridley A" first="Anne" last="Ridley">Anne Ridley</name><name sortKey="Ridley, Anne" sort="Ridley, Anne" uniqKey="Ridley A" first="Anne" last="Ridley">Anne Ridley</name><name sortKey="Willard, Huntington F" sort="Willard, Huntington F" uniqKey="Willard H" first="Huntington F." last="Willard">Huntington F. Willard</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Fisher, Elizabeth M C" sort="Fisher, Elizabeth M C" uniqKey="Fisher E" first="Elizabeth M. C." last="Fisher">Elizabeth M. C. Fisher</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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