AustralieFrV1, Main, Exploration, bibRecord, 008236

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

Identifieur interne : 008236 ( Main/Exploration ); précédent : 008235; suivant : 008237

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

Source :

Nature genetics [ 1061-4036 ] ; 2009.

RBID : Pascal:09-0154126

Descripteurs français

Pascal (Inist)
- Mutation, Homme, Expression génique, Héréditaire, Hypotrichose, Poil.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Gene expression, Hair, Hereditary, Human, Hypotrichosis, Mutation.

Abstract

Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant form of genetic hair loss. In a large Chinese family carrying MUHH, we identified a pathogenic initiation codon mutation in U2HR, an inhibitory upstream ORF in the 5' UTR of the gene encoding the human hairless homolog (HR). U2HR is predicted to encode a 34-amino acid peptide that is highly conserved among mammals. In 18 more families from different ancestral groups, we identified a range of defects in U2HR, including loss of initiation, delayed termination codon and nonsense and missense mutations. Functional analysis showed that these classes of mutations all resulted in increased translation of the main HR physiological ORF. Our results establish the link between MUHH and U2HR, show that fine-tuning of HR protein levels is important in control of hair growth, and identify a potential mechanism for preventing hair loss or promoting hair removal.

Affiliations:

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Le document en format XML

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<author><name sortKey="Irvine, Alan D" sort="Irvine, Alan D" uniqKey="Irvine A" first="Alan D." last="Irvine">Alan D. Irvine</name>
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<author><name sortKey="Sinclair, Rod" sort="Sinclair, Rod" uniqKey="Sinclair R" first="Rod" last="Sinclair">Rod Sinclair</name>
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<author><name sortKey="Dandan Shang" sort="Dandan Shang" uniqKey="Dandan Shang" last="Dandan Shang">DANDAN SHANG</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>McKusick-Zhang Center for Genetic Medicine and National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College</s1>
<s2>Beijing 100005</s2>
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<country>République populaire de Chine</country>
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</affiliation>
</author>
<author><name sortKey="Qing Liu" sort="Qing Liu" uniqKey="Qing Liu" last="Qing Liu">QING LIU</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>McKusick-Zhang Center for Genetic Medicine and National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College</s1>
<s2>Beijing 100005</s2>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Yang Luo" sort="Yang Luo" uniqKey="Yang Luo" last="Yang Luo">YANG LUO</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>The Research Center for Medical Genomics, China Medical University</s1>
<s2>Shenyang 110001</s2>
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<author><name sortKey="Li Jiang" sort="Li Jiang" uniqKey="Li Jiang" last="Li Jiang">LI JIANG</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>The Research Center for Medical Genomics, China Medical University</s1>
<s2>Shenyang 110001</s2>
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</affiliation>
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<author><name sortKey="Chen, Hong Duo" sort="Chen, Hong Duo" uniqKey="Chen H" first="Hong-Duo" last="Chen">Hong-Duo Chen</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Dermatology, No. 1 Hospital of China Medical University</s1>
<s2>Shenyang 110001</s2>
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</affiliation>
</author>
<author><name sortKey="Lo, Wilson H Y" sort="Lo, Wilson H Y" uniqKey="Lo W" first="Wilson H.-Y." last="Lo">Wilson H.-Y. Lo</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>McKusick-Zhang Center for Genetic Medicine and National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College</s1>
<s2>Beijing 100005</s2>
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<country>République populaire de Chine</country>
<placeName><settlement type="city">Pékin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mclean, W H Irwin" sort="Mclean, W H Irwin" uniqKey="Mclean W" first="W. H. Irwin" last="Mclean">W. H. Irwin Mclean</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Epithelial Genetics Group, Division of Molecular Medicine, Colleges of Life Sciences and Medicine, Dentistry & Nursing, University of Dundee</s1>
<s2>Dundee DD1 5EH, Scotland</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
<sZ>38 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Dundee DD1 5EH, Scotland</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="He, Chun Di" sort="He, Chun Di" uniqKey="He C" first="Chun-Di" last="He">Chun-Di He</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Dermatology, No. 1 Hospital of China Medical University</s1>
<s2>Shenyang 110001</s2>
<s3>CHN</s3>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>36 aut.</sZ>
<sZ>39 aut.</sZ>
</inist:fA14>
<country>République populaire de Chine</country>
<wicri:noRegion>Shenyang 110001</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Xue Zhang" sort="Xue Zhang" uniqKey="Xue Zhang" last="Xue Zhang">XUE ZHANG</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>McKusick-Zhang Center for Genetic Medicine and National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College</s1>
<s2>Beijing 100005</s2>
<s3>CHN</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
<sZ>37 aut.</sZ>
<sZ>40 aut.</sZ>
</inist:fA14>
<country>République populaire de Chine</country>
<placeName><settlement type="city">Pékin</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>The Research Center for Medical Genomics, China Medical University</s1>
<s2>Shenyang 110001</s2>
<s3>CHN</s3>
<sZ>2 aut.</sZ>
<sZ>34 aut.</sZ>
<sZ>35 aut.</sZ>
<sZ>40 aut.</sZ>
</inist:fA14>
<country>République populaire de Chine</country>
<wicri:noRegion>Shenyang 110001</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">09-0154126</idno>
<date when="2009">2009</date>
<idno type="stanalyst">PASCAL 09-0154126 INIST</idno>
<idno type="RBID">Pascal:09-0154126</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">002F00</idno>
<idno type="wicri:Area/PascalFrancis/Curation">003120</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">002A20</idno>
<idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">002A20</idno>
<idno type="wicri:doubleKey">1061-4036:2009:Yaran Wen:loss:of:function</idno>
<idno type="wicri:Area/Main/Merge">008989</idno>
<idno type="wicri:Area/Main/Curation">008236</idno>
<idno type="wicri:Area/Main/Exploration">008236</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis</title>
<author><name sortKey="Yaran Wen" sort="Yaran Wen" uniqKey="Yaran Wen" last="Yaran Wen">YARAN WEN</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>McKusick-Zhang Center for Genetic Medicine and National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College</s1>
<s2>Beijing 100005</s2>
<s3>CHN</s3>
<sZ>1 aut.</sZ>
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<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
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</inist:fA14>
<country>République populaire de Chine</country>
<placeName><settlement type="city">Pékin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Yang Liu" sort="Yang Liu" uniqKey="Yang Liu" last="Yang Liu">YANG LIU</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>The Research Center for Medical Genomics, China Medical University</s1>
<s2>Shenyang 110001</s2>
<s3>CHN</s3>
<sZ>2 aut.</sZ>
<sZ>34 aut.</sZ>
<sZ>35 aut.</sZ>
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</inist:fA14>
<country>République populaire de Chine</country>
<wicri:noRegion>Shenyang 110001</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Yiming Xu" sort="Yiming Xu" uniqKey="Yiming Xu" last="Yiming Xu">YIMING XU</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>McKusick-Zhang Center for Genetic Medicine and National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College</s1>
<s2>Beijing 100005</s2>
<s3>CHN</s3>
<sZ>1 aut.</sZ>
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<sZ>5 aut.</sZ>
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</inist:fA14>
<country>République populaire de Chine</country>
<placeName><settlement type="city">Pékin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Yiwei Zhao" sort="Yiwei Zhao" uniqKey="Yiwei Zhao" last="Yiwei Zhao">YIWEI ZHAO</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Epithelial Genetics Group, Division of Molecular Medicine, Colleges of Life Sciences and Medicine, Dentistry & Nursing, University of Dundee</s1>
<s2>Dundee DD1 5EH, Scotland</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
<sZ>38 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Dundee DD1 5EH, Scotland</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rui Hua" sort="Rui Hua" uniqKey="Rui Hua" last="Rui Hua">RUI HUA</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>McKusick-Zhang Center for Genetic Medicine and National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College</s1>
<s2>Beijing 100005</s2>
<s3>CHN</s3>
<sZ>1 aut.</sZ>
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<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
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</inist:fA14>
<country>République populaire de Chine</country>
<placeName><settlement type="city">Pékin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kaibo Wang" sort="Kaibo Wang" uniqKey="Kaibo Wang" last="Kaibo Wang">KAIBO WANG</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Dermatology, No. 1 Hospital of China Medical University</s1>
<s2>Shenyang 110001</s2>
<s3>CHN</s3>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
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</inist:fA14>
<country>République populaire de Chine</country>
<wicri:noRegion>Shenyang 110001</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Miao Sun" sort="Miao Sun" uniqKey="Miao Sun" last="Miao Sun">MIAO SUN</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>McKusick-Zhang Center for Genetic Medicine and National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College</s1>
<s2>Beijing 100005</s2>
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<sZ>1 aut.</sZ>
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<country>République populaire de Chine</country>
<placeName><settlement type="city">Pékin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Yuanhong Li" sort="Yuanhong Li" uniqKey="Yuanhong Li" last="Yuanhong Li">YUANHONG LI</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Dermatology, No. 1 Hospital of China Medical University</s1>
<s2>Shenyang 110001</s2>
<s3>CHN</s3>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
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</inist:fA14>
<country>République populaire de Chine</country>
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</affiliation>
</author>
<author><name sortKey="Sen Yang" sort="Sen Yang" uniqKey="Sen Yang" last="Sen Yang">SEN YANG</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Institute of Dermatology, Anhui Medical University</s1>
<s2>Hefei 230032</s2>
<s3>CHN</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>République populaire de Chine</country>
<placeName><settlement type="city">Hefei</settlement>
<region type="province">Anhui</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zhang, Xue Jun" sort="Zhang, Xue Jun" uniqKey="Zhang X" first="Xue-Jun" last="Zhang">Xue-Jun Zhang</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Institute of Dermatology, Anhui Medical University</s1>
<s2>Hefei 230032</s2>
<s3>CHN</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>République populaire de Chine</country>
<placeName><settlement type="city">Hefei</settlement>
<region type="province">Anhui</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kruse, Roland" sort="Kruse, Roland" uniqKey="Kruse R" first="Roland" last="Kruse">Roland Kruse</name>
<affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Department of Dermatology, University of Düsseldorf</s1>
<s2>40225 Düsseldorf</s2>
<s3>DEU</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
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<region type="district" nuts="2">District de Düsseldorf</region>
<settlement type="city">Düsseldorf</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Cichon, Sven" sort="Cichon, Sven" uniqKey="Cichon S" first="Sven" last="Cichon">Sven Cichon</name>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Institute of Human Genetics, University of Bonn</s1>
<s2>53111 Bonn</s2>
<s3>DEU</s3>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
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<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Bonn</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Department of Genomics, Life & Brain Center, University of Bonn</s1>
<s2>53127 Bonn</s2>
<s3>DEU</s3>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
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<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Bonn</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Betz, Regina C" sort="Betz, Regina C" uniqKey="Betz R" first="Regina C." last="Betz">Regina C. Betz</name>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Institute of Human Genetics, University of Bonn</s1>
<s2>53111 Bonn</s2>
<s3>DEU</s3>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Bonn</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nothen, Markus M" sort="Nothen, Markus M" uniqKey="Nothen M" first="Markus M." last="Nöthen">Markus M. Nöthen</name>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Institute of Human Genetics, University of Bonn</s1>
<s2>53111 Bonn</s2>
<s3>DEU</s3>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Bonn</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Department of Genomics, Life & Brain Center, University of Bonn</s1>
<s2>53127 Bonn</s2>
<s3>DEU</s3>
<sZ>12 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Bonn</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Steensel, Maurice A M" sort="Van Steensel, Maurice A M" uniqKey="Van Steensel M" first="Maurice A. M." last="Van Steensel">Maurice A. M. Van Steensel</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Maastricht University Center for Molecular Dermatology, University Hospital Maastricht</s1>
<s2>6202AZ Maastricht</s2>
<s3>NLD</s3>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>6202AZ Maastricht</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van Geel, Michel" sort="Van Geel, Michel" uniqKey="Van Geel M" first="Michel" last="Van Geel">Michel Van Geel</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Maastricht University Center for Molecular Dermatology, University Hospital Maastricht</s1>
<s2>6202AZ Maastricht</s2>
<s3>NLD</s3>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>6202AZ Maastricht</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Steijlen, Peter M" sort="Steijlen, Peter M" uniqKey="Steijlen P" first="Peter M." last="Steijlen">Peter M. Steijlen</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Maastricht University Center for Molecular Dermatology, University Hospital Maastricht</s1>
<s2>6202AZ Maastricht</s2>
<s3>NLD</s3>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>6202AZ Maastricht</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hohl, Daniel" sort="Hohl, Daniel" uniqKey="Hohl D" first="Daniel" last="Hohl">Daniel Hohl</name>
<affiliation wicri:level="1"><inist:fA14 i1="10"><s1>CHUV, Hôpital de Beaumont</s1>
<s2>1011 Lausanne</s2>
<s3>CHE</s3>
<sZ>18 aut.</sZ>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>Suisse</country>
<placeName><settlement type="city">Lausanne</settlement>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Huber, Marcel" sort="Huber, Marcel" uniqKey="Huber M" first="Marcel" last="Huber">Marcel Huber</name>
<affiliation wicri:level="1"><inist:fA14 i1="10"><s1>CHUV, Hôpital de Beaumont</s1>
<s2>1011 Lausanne</s2>
<s3>CHE</s3>
<sZ>18 aut.</sZ>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>Suisse</country>
<placeName><settlement type="city">Lausanne</settlement>
<region nuts="3" type="region">Canton de Vaud</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Dunnill, Giles S" sort="Dunnill, Giles S" uniqKey="Dunnill G" first="Giles S." last="Dunnill">Giles S. Dunnill</name>
<affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Department of Dermatology, Bristol Royal Infirmary</s1>
<s2>Bristol BS2 8HW</s2>
<s3>GBR</s3>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Bristol BS2 8HW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kennedy, Cameron" sort="Kennedy, Cameron" uniqKey="Kennedy C" first="Cameron" last="Kennedy">Cameron Kennedy</name>
<affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Department of Dermatology, Bristol Royal Infirmary</s1>
<s2>Bristol BS2 8HW</s2>
<s3>GBR</s3>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Bristol BS2 8HW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Messenger, Andrew" sort="Messenger, Andrew" uniqKey="Messenger A" first="Andrew" last="Messenger">Andrew Messenger</name>
<affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Department of Dermatology, Royal Hallamshire Hospital</s1>
<s2>Sheffield S10 2JF</s2>
<s3>GBR</s3>
<sZ>22 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Sheffield S10 2JF</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Munro, Colin S" sort="Munro, Colin S" uniqKey="Munro C" first="Colin S." last="Munro">Colin S. Munro</name>
<affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Department of Dermatology, Southern General Hospital</s1>
<s2>Glasgow G51 4TF</s2>
<s3>GBR</s3>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Glasgow G51 4TF</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Terrinoni, Alessandro" sort="Terrinoni, Alessandro" uniqKey="Terrinoni A" first="Alessandro" last="Terrinoni">Alessandro Terrinoni</name>
<affiliation wicri:level="1"><inist:fA14 i1="14"><s1>IDI-IRCCS Biochemistry Laboratory, University of Tor Vergata</s1>
<s2>00133 Rome</s2>
<s3>ITA</s3>
<sZ>24 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hovnanian, Alain" sort="Hovnanian, Alain" uniqKey="Hovnanian A" first="Alain" last="Hovnanian">Alain Hovnanian</name>
<affiliation wicri:level="3"><inist:fA14 i1="15"><s1>INSERM U563, Centre de Physiopathologie de Toulouse Purpan</s1>
<s2>Toulouse 313000</s2>
<s3>FRA</s3>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Occitanie (région administrative)</region>
<region type="old region" nuts="2">Midi-Pyrénées</region>
</placeName>
</affiliation>
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<author><name sortKey="Bodemer, Christine" sort="Bodemer, Christine" uniqKey="Bodemer C" first="Christine" last="Bodemer">Christine Bodemer</name>
<affiliation wicri:level="3"><inist:fA14 i1="16"><s1>Department of Dermatology, Necker Hospital</s1>
<s2>75105 Paris</s2>
<s3>FRA</s3>
<sZ>26 aut.</sZ>
<sZ>27 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="De Prost, Yves" sort="De Prost, Yves" uniqKey="De Prost Y" first="Yves" last="De Prost">Yves De Prost</name>
<affiliation wicri:level="3"><inist:fA14 i1="16"><s1>Department of Dermatology, Necker Hospital</s1>
<s2>75105 Paris</s2>
<s3>FRA</s3>
<sZ>26 aut.</sZ>
<sZ>27 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Palier, Amy S" sort="Palier, Amy S" uniqKey="Palier A" first="Amy S." last="Palier">Amy S. Palier</name>
<affiliation wicri:level="1"><inist:fA14 i1="17"><s1>Departments of Dermatology and Pediatrics, Northwestern University</s1>
<s2>Chicago, Illinois 60611</s2>
<s3>USA</s3>
<sZ>28 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Chicago, Illinois 60611</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Irvine, Alan D" sort="Irvine, Alan D" uniqKey="Irvine A" first="Alan D." last="Irvine">Alan D. Irvine</name>
<affiliation wicri:level="1"><inist:fA14 i1="18"><s1>Department of Paediatric Dermatology, Our Lady's Children's Hospital</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>29 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Dublin</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="19"><s1>Department of Clinical Medicine, Trinity College Dublin</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>29 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Dublin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sinclair, Rod" sort="Sinclair, Rod" uniqKey="Sinclair R" first="Rod" last="Sinclair">Rod Sinclair</name>
<affiliation wicri:level="1"><inist:fA14 i1="20"><s1>Department of Dermatology, St. Vincent's Hospital</s1>
<s2>Melbourne, Victoria 3065</s2>
<s3>AUS</s3>
<sZ>30 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Melbourne, Victoria 3065</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Green, Jack" sort="Green, Jack" uniqKey="Green J" first="Jack" last="Green">Jack Green</name>
<affiliation wicri:level="1"><inist:fA14 i1="20"><s1>Department of Dermatology, St. Vincent's Hospital</s1>
<s2>Melbourne, Victoria 3065</s2>
<s3>AUS</s3>
<sZ>30 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Melbourne, Victoria 3065</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dandan Shang" sort="Dandan Shang" uniqKey="Dandan Shang" last="Dandan Shang">DANDAN SHANG</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>McKusick-Zhang Center for Genetic Medicine and National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College</s1>
<s2>Beijing 100005</s2>
<s3>CHN</s3>
<sZ>1 aut.</sZ>
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</inist:fA14>
<country>République populaire de Chine</country>
<placeName><settlement type="city">Pékin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Qing Liu" sort="Qing Liu" uniqKey="Qing Liu" last="Qing Liu">QING LIU</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>McKusick-Zhang Center for Genetic Medicine and National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College</s1>
<s2>Beijing 100005</s2>
<s3>CHN</s3>
<sZ>1 aut.</sZ>
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</inist:fA14>
<country>République populaire de Chine</country>
<placeName><settlement type="city">Pékin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Yang Luo" sort="Yang Luo" uniqKey="Yang Luo" last="Yang Luo">YANG LUO</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>The Research Center for Medical Genomics, China Medical University</s1>
<s2>Shenyang 110001</s2>
<s3>CHN</s3>
<sZ>2 aut.</sZ>
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<country>République populaire de Chine</country>
<wicri:noRegion>Shenyang 110001</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Li Jiang" sort="Li Jiang" uniqKey="Li Jiang" last="Li Jiang">LI JIANG</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>The Research Center for Medical Genomics, China Medical University</s1>
<s2>Shenyang 110001</s2>
<s3>CHN</s3>
<sZ>2 aut.</sZ>
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<country>République populaire de Chine</country>
<wicri:noRegion>Shenyang 110001</wicri:noRegion>
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</author>
<author><name sortKey="Chen, Hong Duo" sort="Chen, Hong Duo" uniqKey="Chen H" first="Hong-Duo" last="Chen">Hong-Duo Chen</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Dermatology, No. 1 Hospital of China Medical University</s1>
<s2>Shenyang 110001</s2>
<s3>CHN</s3>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>36 aut.</sZ>
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<country>République populaire de Chine</country>
<wicri:noRegion>Shenyang 110001</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lo, Wilson H Y" sort="Lo, Wilson H Y" uniqKey="Lo W" first="Wilson H.-Y." last="Lo">Wilson H.-Y. Lo</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>McKusick-Zhang Center for Genetic Medicine and National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College</s1>
<s2>Beijing 100005</s2>
<s3>CHN</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
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<sZ>40 aut.</sZ>
</inist:fA14>
<country>République populaire de Chine</country>
<placeName><settlement type="city">Pékin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mclean, W H Irwin" sort="Mclean, W H Irwin" uniqKey="Mclean W" first="W. H. Irwin" last="Mclean">W. H. Irwin Mclean</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Epithelial Genetics Group, Division of Molecular Medicine, Colleges of Life Sciences and Medicine, Dentistry & Nursing, University of Dundee</s1>
<s2>Dundee DD1 5EH, Scotland</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
<sZ>38 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Dundee DD1 5EH, Scotland</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="He, Chun Di" sort="He, Chun Di" uniqKey="He C" first="Chun-Di" last="He">Chun-Di He</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Dermatology, No. 1 Hospital of China Medical University</s1>
<s2>Shenyang 110001</s2>
<s3>CHN</s3>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>36 aut.</sZ>
<sZ>39 aut.</sZ>
</inist:fA14>
<country>République populaire de Chine</country>
<wicri:noRegion>Shenyang 110001</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Xue Zhang" sort="Xue Zhang" uniqKey="Xue Zhang" last="Xue Zhang">XUE ZHANG</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>McKusick-Zhang Center for Genetic Medicine and National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College</s1>
<s2>Beijing 100005</s2>
<s3>CHN</s3>
<sZ>1 aut.</sZ>
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<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
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<sZ>40 aut.</sZ>
</inist:fA14>
<country>République populaire de Chine</country>
<placeName><settlement type="city">Pékin</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>The Research Center for Medical Genomics, China Medical University</s1>
<s2>Shenyang 110001</s2>
<s3>CHN</s3>
<sZ>2 aut.</sZ>
<sZ>34 aut.</sZ>
<sZ>35 aut.</sZ>
<sZ>40 aut.</sZ>
</inist:fA14>
<country>République populaire de Chine</country>
<wicri:noRegion>Shenyang 110001</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Nature genetics</title>
<title level="j" type="abbreviated">Nat. genet.</title>
<idno type="ISSN">1061-4036</idno>
<imprint><date when="2009">2009</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Nature genetics</title>
<title level="j" type="abbreviated">Nat. genet.</title>
<idno type="ISSN">1061-4036</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Gene expression</term>
<term>Hair</term>
<term>Hereditary</term>
<term>Human</term>
<term>Hypotrichosis</term>
<term>Mutation</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Mutation</term>
<term>Homme</term>
<term>Expression génique</term>
<term>Héréditaire</term>
<term>Hypotrichose</term>
<term>Poil</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant form of genetic hair loss. In a large Chinese family carrying MUHH, we identified a pathogenic initiation codon mutation in U2HR, an inhibitory upstream ORF in the 5' UTR of the gene encoding the human hairless homolog (HR). U2HR is predicted to encode a 34-amino acid peptide that is highly conserved among mammals. In 18 more families from different ancestral groups, we identified a range of defects in U2HR, including loss of initiation, delayed termination codon and nonsense and missense mutations. Functional analysis showed that these classes of mutations all resulted in increased translation of the main HR physiological ORF. Our results establish the link between MUHH and U2HR, show that fine-tuning of HR protein levels is important in control of hair growth, and identify a potential mechanism for preventing hair loss or promoting hair removal.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>France</li>
<li>Irlande (pays)</li>
<li>Italie</li>
<li>Pays-Bas</li>
<li>Royaume-Uni</li>
<li>République populaire de Chine</li>
<li>Suisse</li>
<li>États-Unis</li>
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<tree><country name="République populaire de Chine"><noRegion><name sortKey="Yaran Wen" sort="Yaran Wen" uniqKey="Yaran Wen" last="Yaran Wen">YARAN WEN</name>
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<name sortKey="Chen, Hong Duo" sort="Chen, Hong Duo" uniqKey="Chen H" first="Hong-Duo" last="Chen">Hong-Duo Chen</name>
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<name sortKey="He, Chun Di" sort="He, Chun Di" uniqKey="He C" first="Chun-Di" last="He">Chun-Di He</name>
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</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Yiwei Zhao" sort="Yiwei Zhao" uniqKey="Yiwei Zhao" last="Yiwei Zhao">YIWEI ZHAO</name>
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<name sortKey="Munro, Colin S" sort="Munro, Colin S" uniqKey="Munro C" first="Colin S." last="Munro">Colin S. Munro</name>
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</region>
<name sortKey="Betz, Regina C" sort="Betz, Regina C" uniqKey="Betz R" first="Regina C." last="Betz">Regina C. Betz</name>
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<name sortKey="Cichon, Sven" sort="Cichon, Sven" uniqKey="Cichon S" first="Sven" last="Cichon">Sven Cichon</name>
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<name sortKey="Nothen, Markus M" sort="Nothen, Markus M" uniqKey="Nothen M" first="Markus M." last="Nöthen">Markus M. Nöthen</name>
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<country name="Pays-Bas"><noRegion><name sortKey="Van Steensel, Maurice A M" sort="Van Steensel, Maurice A M" uniqKey="Van Steensel M" first="Maurice A. M." last="Van Steensel">Maurice A. M. Van Steensel</name>
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<name sortKey="Steijlen, Peter M" sort="Steijlen, Peter M" uniqKey="Steijlen P" first="Peter M." last="Steijlen">Peter M. Steijlen</name>
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<country name="Suisse"><region name="Canton de Vaud"><name sortKey="Hohl, Daniel" sort="Hohl, Daniel" uniqKey="Hohl D" first="Daniel" last="Hohl">Daniel Hohl</name>
</region>
<name sortKey="Huber, Marcel" sort="Huber, Marcel" uniqKey="Huber M" first="Marcel" last="Huber">Marcel Huber</name>
</country>
<country name="Italie"><region name="Latium"><name sortKey="Terrinoni, Alessandro" sort="Terrinoni, Alessandro" uniqKey="Terrinoni A" first="Alessandro" last="Terrinoni">Alessandro Terrinoni</name>
</region>
</country>
<country name="France"><region name="Occitanie (région administrative)"><name sortKey="Hovnanian, Alain" sort="Hovnanian, Alain" uniqKey="Hovnanian A" first="Alain" last="Hovnanian">Alain Hovnanian</name>
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<name sortKey="Bodemer, Christine" sort="Bodemer, Christine" uniqKey="Bodemer C" first="Christine" last="Bodemer">Christine Bodemer</name>
<name sortKey="De Prost, Yves" sort="De Prost, Yves" uniqKey="De Prost Y" first="Yves" last="De Prost">Yves De Prost</name>
</country>
<country name="États-Unis"><noRegion><name sortKey="Palier, Amy S" sort="Palier, Amy S" uniqKey="Palier A" first="Amy S." last="Palier">Amy S. Palier</name>
</noRegion>
</country>
<country name="Irlande (pays)"><noRegion><name sortKey="Irvine, Alan D" sort="Irvine, Alan D" uniqKey="Irvine A" first="Alan D." last="Irvine">Alan D. Irvine</name>
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<name sortKey="Green, Jack" sort="Green, Jack" uniqKey="Green J" first="Jack" last="Green">Jack Green</name>
</country>
</tree>
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</record>

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   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
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   |clé=     Pascal:09-0154126
   |texte=   Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
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	Serveur d'exploration sur les relations entre la France et l'Australie
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Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

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