Screen for MAOA mutations in target human groups
Identifieur interne : 001D38 ( Main/Exploration ); précédent : 001D37; suivant : 001D39Screen for MAOA mutations in target human groups
Auteurs : Deborah E. Schuback [États-Unis] ; Evan L. Mulligan [États-Unis] ; Katherine B. Sims [États-Unis] ; Elizabeth A. Tivol [États-Unis] ; Benjamin D. Greenberg [États-Unis] ; Shu-Fen Chang [République populaire de Chine] ; Show-Lin Yang [République populaire de Chine] ; Yi-Chien Mau [République populaire de Chine] ; Chen-Yang Shen [République populaire de Chine] ; Mei-Shang Ho [République populaire de Chine] ; Nan-Hua Yang [République populaire de Chine] ; Merlin G. Butler [États-Unis] ; Stephen Fink [États-Unis] ; Charles E. Schwartz [États-Unis] ; F. Berlin [États-Unis] ; Xandra O. Breakefield [États-Unis] ; Dennis L. Murphy [États-Unis] ; Yun-Pung Paul Hsu [République populaire de Chine]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1999-02-05.
English descriptors
Abstract
Brunner et al. [1993: Am J Hum Genet 52:1032–1039; 1993: Science 262:578–580] described males with an MAO‐A deficiency state resulting from a premature stop codon in the coding region of the MAOA gene. This deficiency state was associated with abnormal levels of amines and amine metabolites in urine and plasma of affected males, as well as low normal intelligence and apparent difficulty in impulse control, including inappropriate sexual behavior. In the present study, disruption of the MAOA gene was evaluated in males with mental retardation with and without a history of sexually deviant behavior, as well as normal controls, healthy males, and patients with other diseases (Parkinson disease, Lesch‐Nyhan syndrome). When available, plasma samples were evaluated first for levels of 3‐methoxy, 4‐hydroxyphenolglycol (MHPG), a metabolite of norepinephrine which serves as the most sensitive index of MAO‐A activity in humans. Blood DNA from individuals with abnormally low MHPG, and from other individuals for whom metabolite levels were not available, were screened for nucleotide variations in the coding region of the MAOA gene by single‐strand conformational polymorphism (SSCP) analysis across all 15 exons and splice junctions, and by sequencing, when indicated by either altered metabolites or SSCP shifts. No evidence for mutations disrupting the MAOA gene was found in 398 samples from the target populations, including institutionalized mentally retarded males (N = 352) and males participating in a sexual disorders clinic (N = 46), as well as control groups (N = 75). These studies indicate that MAOA deficiency states are not common in humans. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:25–28, 1999. © 1999 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/(SICI)1096-8628(19990205)88:1<25::AID-AJMG4>3.0.CO;2-E
Affiliations:
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Schuback</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Department of Neurology, Massachusetts General Hospital, and Harvard Medical School, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Mulligan, Evan L" sort="Mulligan, Evan L" uniqKey="Mulligan E" first="Evan L." last="Mulligan">Evan L. Mulligan</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Department of Neurology, Massachusetts General Hospital, and Harvard Medical School, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Sims, Katherine B" sort="Sims, Katherine B" uniqKey="Sims K" first="Katherine B." last="Sims">Katherine B. Sims</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Department of Neurology, Massachusetts General Hospital, and Harvard Medical School, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Tivol, Elizabeth A" sort="Tivol, Elizabeth A" uniqKey="Tivol E" first="Elizabeth A." last="Tivol">Elizabeth A. Tivol</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Department of Neurology, Massachusetts General Hospital, and Harvard Medical School, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Greenberg, Benjamin D" sort="Greenberg, Benjamin D" uniqKey="Greenberg B" first="Benjamin D." last="Greenberg">Benjamin D. Greenberg</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Laboratory of Clinical Science, NIMH, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Chang, Shu En" sort="Chang, Shu En" uniqKey="Chang S" first="Shu-Fen" last="Chang">Shu-Fen Chang</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan</wicri:regionArea><wicri:noRegion>Taiwan</wicri:noRegion></affiliation></author><author><name sortKey="Yang, Show In" sort="Yang, Show In" uniqKey="Yang S" first="Show-Lin" last="Yang">Show-Lin Yang</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan</wicri:regionArea><wicri:noRegion>Taiwan</wicri:noRegion></affiliation></author><author><name sortKey="Mau, Yi Hien" sort="Mau, Yi Hien" uniqKey="Mau Y" first="Yi-Chien" last="Mau">Yi-Chien Mau</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan</wicri:regionArea><wicri:noRegion>Taiwan</wicri:noRegion></affiliation></author><author><name sortKey="Shen, Chen Ang" sort="Shen, Chen Ang" uniqKey="Shen C" first="Chen-Yang" last="Shen">Chen-Yang Shen</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan</wicri:regionArea><wicri:noRegion>Taiwan</wicri:noRegion></affiliation></author><author><name sortKey="Ho, Mei Hang" sort="Ho, Mei Hang" uniqKey="Ho M" first="Mei-Shang" last="Ho">Mei-Shang Ho</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan</wicri:regionArea><wicri:noRegion>Taiwan</wicri:noRegion></affiliation></author><author><name sortKey="Yang, Nan Ua" sort="Yang, Nan Ua" uniqKey="Yang N" first="Nan-Hua" last="Yang">Nan-Hua Yang</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Tainan Educational Nursing Institute, Tainan, Taiwan</wicri:regionArea><wicri:noRegion>Taiwan</wicri:noRegion></affiliation></author><author><name sortKey="Butler, Merlin G" sort="Butler, Merlin G" uniqKey="Butler M" first="Merlin G." last="Butler">Merlin G. Butler</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Tennessee</region></placeName><wicri:cityArea>Division of Genetics, Department of Pediatrics, Vanderbilt University School of Medicine, Nashville</wicri:cityArea></affiliation></author><author><name sortKey="Fink, Stephen" sort="Fink, Stephen" uniqKey="Fink S" first="Stephen" last="Fink">Stephen Fink</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Department of Neurology, Massachusetts General Hospital, and Harvard Medical School, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Schwartz, Charles E" sort="Schwartz, Charles E" uniqKey="Schwartz C" first="Charles E." last="Schwartz">Charles E. Schwartz</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Caroline du Sud</region></placeName><wicri:cityArea>J.C. Self Research Institute and Greenwood Genetic Center, Greenwood</wicri:cityArea></affiliation></author><author><name sortKey="Berlin, F" sort="Berlin, F" uniqKey="Berlin F" first="F." last="Berlin">F. Berlin</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore</wicri:cityArea></affiliation></author><author><name sortKey="Breakefield, Xandra O" sort="Breakefield, Xandra O" uniqKey="Breakefield X" first="Xandra O." last="Breakefield">Xandra O. Breakefield</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Department of Neurology, Massachusetts General Hospital, and Harvard Medical School, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Murphy, Dennis L" sort="Murphy, Dennis L" uniqKey="Murphy D" first="Dennis L." last="Murphy">Dennis L. Murphy</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Laboratory of Clinical Science, NIMH, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Hsu, Yun Ung Paul" sort="Hsu, Yun Ung Paul" uniqKey="Hsu Y" first="Yun-Pung Paul" last="Hsu">Yun-Pung Paul Hsu</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Life Science, National Tsing Hua University, Hsinchu, Taiwan</wicri:regionArea><wicri:noRegion>Taiwan</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">American Journal of Medical Genetics</title><title level="j" type="abbrev">Am. J. Med. Genet.</title><idno type="ISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1999-02-05">1999-02-05</date><biblScope unit="volume">88</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="25">25</biblScope><biblScope unit="page" to="28">28</biblScope></imprint><idno type="ISSN">0148-7299</idno></series><idno type="istex">93081C3EDB513C1986BA85D05400952DD85AD7BC</idno><idno type="DOI">10.1002/(SICI)1096-8628(19990205)88:1<25::AID-AJMG4>3.0.CO;2-E</idno><idno type="ArticleID">AJMG4</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>X‐linked disorders</term><term>biogenic amines</term><term>genetics</term><term>mental retardation</term><term>monoamine oxidase</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="fr">Brunner et al. [1993: Am J Hum Genet 52:1032–1039; 1993: Science 262:578–580] described males with an MAO‐A deficiency state resulting from a premature stop codon in the coding region of the MAOA gene. This deficiency state was associated with abnormal levels of amines and amine metabolites in urine and plasma of affected males, as well as low normal intelligence and apparent difficulty in impulse control, including inappropriate sexual behavior. In the present study, disruption of the MAOA gene was evaluated in males with mental retardation with and without a history of sexually deviant behavior, as well as normal controls, healthy males, and patients with other diseases (Parkinson disease, Lesch‐Nyhan syndrome). When available, plasma samples were evaluated first for levels of 3‐methoxy, 4‐hydroxyphenolglycol (MHPG), a metabolite of norepinephrine which serves as the most sensitive index of MAO‐A activity in humans. Blood DNA from individuals with abnormally low MHPG, and from other individuals for whom metabolite levels were not available, were screened for nucleotide variations in the coding region of the MAOA gene by single‐strand conformational polymorphism (SSCP) analysis across all 15 exons and splice junctions, and by sequencing, when indicated by either altered metabolites or SSCP shifts. No evidence for mutations disrupting the MAOA gene was found in 398 samples from the target populations, including institutionalized mentally retarded males (N = 352) and males participating in a sexual disorders clinic (N = 46), as well as control groups (N = 75). These studies indicate that MAOA deficiency states are not common in humans. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:25–28, 1999. © 1999 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>République populaire de Chine</li><li>États-Unis</li></country><region><li>Caroline du Sud</li><li>Maryland</li><li>Massachusetts</li><li>Tennessee</li></region></list><tree><country name="États-Unis"><region name="Massachusetts"><name sortKey="Schuback, Deborah E" sort="Schuback, Deborah E" uniqKey="Schuback D" first="Deborah E." last="Schuback">Deborah E. Schuback</name></region><name sortKey="Berlin, F" sort="Berlin, F" uniqKey="Berlin F" first="F." last="Berlin">F. Berlin</name><name sortKey="Breakefield, Xandra O" sort="Breakefield, Xandra O" uniqKey="Breakefield X" first="Xandra O." last="Breakefield">Xandra O. Breakefield</name><name sortKey="Butler, Merlin G" sort="Butler, Merlin G" uniqKey="Butler M" first="Merlin G." last="Butler">Merlin G. Butler</name><name sortKey="Fink, Stephen" sort="Fink, Stephen" uniqKey="Fink S" first="Stephen" last="Fink">Stephen Fink</name><name sortKey="Greenberg, Benjamin D" sort="Greenberg, Benjamin D" uniqKey="Greenberg B" first="Benjamin D." last="Greenberg">Benjamin D. Greenberg</name><name sortKey="Mulligan, Evan L" sort="Mulligan, Evan L" uniqKey="Mulligan E" first="Evan L." last="Mulligan">Evan L. Mulligan</name><name sortKey="Murphy, Dennis L" sort="Murphy, Dennis L" uniqKey="Murphy D" first="Dennis L." last="Murphy">Dennis L. Murphy</name><name sortKey="Schwartz, Charles E" sort="Schwartz, Charles E" uniqKey="Schwartz C" first="Charles E." last="Schwartz">Charles E. Schwartz</name><name sortKey="Sims, Katherine B" sort="Sims, Katherine B" uniqKey="Sims K" first="Katherine B." last="Sims">Katherine B. Sims</name><name sortKey="Tivol, Elizabeth A" sort="Tivol, Elizabeth A" uniqKey="Tivol E" first="Elizabeth A." last="Tivol">Elizabeth A. Tivol</name></country><country name="République populaire de Chine"><noRegion><name sortKey="Chang, Shu En" sort="Chang, Shu En" uniqKey="Chang S" first="Shu-Fen" last="Chang">Shu-Fen Chang</name></noRegion><name sortKey="Ho, Mei Hang" sort="Ho, Mei Hang" uniqKey="Ho M" first="Mei-Shang" last="Ho">Mei-Shang Ho</name><name sortKey="Hsu, Yun Ung Paul" sort="Hsu, Yun Ung Paul" uniqKey="Hsu Y" first="Yun-Pung Paul" last="Hsu">Yun-Pung Paul Hsu</name><name sortKey="Mau, Yi Hien" sort="Mau, Yi Hien" uniqKey="Mau Y" first="Yi-Chien" last="Mau">Yi-Chien Mau</name><name sortKey="Shen, Chen Ang" sort="Shen, Chen Ang" uniqKey="Shen C" first="Chen-Yang" last="Shen">Chen-Yang Shen</name><name sortKey="Yang, Nan Ua" sort="Yang, Nan Ua" uniqKey="Yang N" first="Nan-Hua" last="Yang">Nan-Hua Yang</name><name sortKey="Yang, Show In" sort="Yang, Show In" uniqKey="Yang S" first="Show-Lin" last="Yang">Show-Lin Yang</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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