Tissue-Specific Somatic Mosaicism in Spinal and Bulbar Muscular Atrophy Is Dependent on CAG-Repeat Length and Androgen Receptor–Gene Expression Level
The factors influencing the tissue-specific pattern of somatic mosaicism in CAG-repeat diseases have not yet been fully resolved. We performed a detailed analysis of the degree of somatic mosaicism in various tissues from 20 patients with spinal and bulbar muscular atrophy (SBMA), including 4 who we...
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| Veröffentlicht in: | American journal of human genetics 1999-10, Vol.65 (4), p.966-973 |
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| creator | Tanaka, Fumiaki Reeves, Matthew F. Ito, Yasuhiro Matsumoto, Michiyo Li, Mei Miwa, Shigeru Inukai, Akira Yamamoto, Masahiko Doyu, Manabu Yoshida, Mari Hashizume, Yoshio Terao, Shin-ichi Mitsuma, Terunori Sobue, Gen |
| description | The factors influencing the tissue-specific pattern of somatic mosaicism in CAG-repeat diseases have not yet been fully resolved. We performed a detailed analysis of the degree of somatic mosaicism in various tissues from 20 patients with spinal and bulbar muscular atrophy (SBMA), including 4 who were deceased. The most outstanding feature was the prominent somatic mosaicism observed in the cardiac and skeletal muscles, composed predominantly of postmitotic cells, and in the skin, prostate, and testis. The CNS tissues, liver, and spleen showed the least mosaicism. The tissue distribution of somatic mosaicism in patients with SBMA was markedly different from that in patients with Huntington disease (HD) and from that in patients with dentatorubral-pallidoluysian atrophy (DRPLA). The degree of somatic mosaicism correlated with the CAG-repeat number but not with age at examination. Furthermore, tissues with a higher mosaicism level corresponded well to those with a higher expression level of androgen receptor protein. The tissue-specific pattern of somatic mosaicism related not only to cell composition with different cell turnover rates but to repeat size and gene expression levels, and postnatal cell division is unlikely to be a major cause of somatic mosaicism probably because of the relative stability of CAG repeat in SBMA. |
| doi_str_mv | 10.1086/302578 |
| format | Article |
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We performed a detailed analysis of the degree of somatic mosaicism in various tissues from 20 patients with spinal and bulbar muscular atrophy (SBMA), including 4 who were deceased. The most outstanding feature was the prominent somatic mosaicism observed in the cardiac and skeletal muscles, composed predominantly of postmitotic cells, and in the skin, prostate, and testis. The CNS tissues, liver, and spleen showed the least mosaicism. The tissue distribution of somatic mosaicism in patients with SBMA was markedly different from that in patients with Huntington disease (HD) and from that in patients with dentatorubral-pallidoluysian atrophy (DRPLA). The degree of somatic mosaicism correlated with the CAG-repeat number but not with age at examination. Furthermore, tissues with a higher mosaicism level corresponded well to those with a higher expression level of androgen receptor protein. The tissue-specific pattern of somatic mosaicism related not only to cell composition with different cell turnover rates but to repeat size and gene expression levels, and postnatal cell division is unlikely to be a major cause of somatic mosaicism probably because of the relative stability of CAG repeat in SBMA.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>DOI: 10.1086/302578</identifier><identifier>PMID: 10486315</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Chicago, IL: Elsevier Inc</publisher><subject>Adult ; Aged ; Aging - genetics ; Alleles ; Androgen receptor gene expression ; Biological and medical sciences ; CAG repeat ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; DRPLA ; Gene Expression ; Humans ; Huntington disease ; Huntington Disease - genetics ; Male ; Medical sciences ; Middle Aged ; Mitosis ; Molecular Sequence Data ; Mosaicism - genetics ; Muscle, Skeletal - metabolism ; Muscle, Skeletal - pathology ; Muscular Disorders, Atrophic - genetics ; Muscular Disorders, Atrophic - pathology ; Myocardium - metabolism ; Myocardium - pathology ; Myoclonic Epilepsies, Progressive - genetics ; Neurology ; Organ Specificity ; Prostate - metabolism ; Prostate - pathology ; Receptors, Androgen - genetics ; SBMA ; Skin - metabolism ; Skin - pathology ; Somatic mosaicism ; Testis - metabolism ; Testis - pathology ; Trinucleotide Repeat Expansion - genetics ; Trinucleotide Repeats - genetics</subject><ispartof>American journal of human genetics, 1999-10, Vol.65 (4), p.966-973</ispartof><rights>1999 The American Society of Human Genetics</rights><rights>1999 INIST-CNRS</rights><rights>1999 by The American Society of Human Genetics. All rights reserved. 1999</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c498t-b8587766abf12794b3bd760ea56c655eb7ba9f46132565a7ba360458b381ed483</citedby><cites>FETCH-LOGICAL-c498t-b8587766abf12794b3bd760ea56c655eb7ba9f46132565a7ba360458b381ed483</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1288267/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0002929707625993$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,3537,27901,27902,53766,53768,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1974560$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10486315$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Tanaka, Fumiaki</creatorcontrib><creatorcontrib>Reeves, Matthew F.</creatorcontrib><creatorcontrib>Ito, Yasuhiro</creatorcontrib><creatorcontrib>Matsumoto, Michiyo</creatorcontrib><creatorcontrib>Li, Mei</creatorcontrib><creatorcontrib>Miwa, Shigeru</creatorcontrib><creatorcontrib>Inukai, Akira</creatorcontrib><creatorcontrib>Yamamoto, Masahiko</creatorcontrib><creatorcontrib>Doyu, Manabu</creatorcontrib><creatorcontrib>Yoshida, Mari</creatorcontrib><creatorcontrib>Hashizume, Yoshio</creatorcontrib><creatorcontrib>Terao, Shin-ichi</creatorcontrib><creatorcontrib>Mitsuma, Terunori</creatorcontrib><creatorcontrib>Sobue, Gen</creatorcontrib><title>Tissue-Specific Somatic Mosaicism in Spinal and Bulbar Muscular Atrophy Is Dependent on CAG-Repeat Length and Androgen Receptor–Gene Expression Level</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>The factors influencing the tissue-specific pattern of somatic mosaicism in CAG-repeat diseases have not yet been fully resolved. We performed a detailed analysis of the degree of somatic mosaicism in various tissues from 20 patients with spinal and bulbar muscular atrophy (SBMA), including 4 who were deceased. The most outstanding feature was the prominent somatic mosaicism observed in the cardiac and skeletal muscles, composed predominantly of postmitotic cells, and in the skin, prostate, and testis. The CNS tissues, liver, and spleen showed the least mosaicism. The tissue distribution of somatic mosaicism in patients with SBMA was markedly different from that in patients with Huntington disease (HD) and from that in patients with dentatorubral-pallidoluysian atrophy (DRPLA). The degree of somatic mosaicism correlated with the CAG-repeat number but not with age at examination. Furthermore, tissues with a higher mosaicism level corresponded well to those with a higher expression level of androgen receptor protein. 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Prion diseases</subject><subject>DRPLA</subject><subject>Gene Expression</subject><subject>Humans</subject><subject>Huntington disease</subject><subject>Huntington Disease - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Mitosis</subject><subject>Molecular Sequence Data</subject><subject>Mosaicism - genetics</subject><subject>Muscle, Skeletal - metabolism</subject><subject>Muscle, Skeletal - pathology</subject><subject>Muscular Disorders, Atrophic - genetics</subject><subject>Muscular Disorders, Atrophic - pathology</subject><subject>Myocardium - metabolism</subject><subject>Myocardium - pathology</subject><subject>Myoclonic Epilepsies, Progressive - genetics</subject><subject>Neurology</subject><subject>Organ Specificity</subject><subject>Prostate - metabolism</subject><subject>Prostate - pathology</subject><subject>Receptors, Androgen - genetics</subject><subject>SBMA</subject><subject>Skin - metabolism</subject><subject>Skin - pathology</subject><subject>Somatic mosaicism</subject><subject>Testis - metabolism</subject><subject>Testis - pathology</subject><subject>Trinucleotide Repeat Expansion - genetics</subject><subject>Trinucleotide Repeats - genetics</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdkc9u1DAQxi1ERbcFHgH5gLiltZP4Ty5I26UslbZC6paz5TiTXaPEDnayojfeoQfejyfBZVe0cBp75jffjOZD6DUlZ5RIfl6QnAn5DM0oK0TGOWHP0YwQkmdVXoljdBLjV0IolaR4gY4pKSUvKJuhn7c2xgmy9QDGttbgte_1mOK1j9oaG3tsHV4P1ukOa9fgi6mrdcDXUzRTlx7zMfhhe4evIv4AA7gG3Ii9w4v5MrtJCT3iFbjNuP3TPXdN8Btw-AYMDKMPv37cL8EBvvw-BIjRps4V7KB7iY5a3UV4dYin6MvHy9vFp2z1eXm1mK8yU1ZyzGrJpBCc67qluajKuqgbwQloxg1nDGpR66otOS1yxplOv4KTksm6kBSaUhan6P1ed5jqHhqTtg-6U0OwvQ53ymur_q04u1Ubv1M0lzLnIgm8OwgE_22COKreRgNdpx34KSpelVXFCHsETfAxBmj_DqFEPXio9h4m8M3TlZ5ge9MS8PYA6Gh01wbtklGPXCVKxknCyB6DdL-dhaCiseAMNDaAGVXj7f-jfwOe9bX-</recordid><startdate>19991001</startdate><enddate>19991001</enddate><creator>Tanaka, Fumiaki</creator><creator>Reeves, Matthew F.</creator><creator>Ito, Yasuhiro</creator><creator>Matsumoto, Michiyo</creator><creator>Li, Mei</creator><creator>Miwa, Shigeru</creator><creator>Inukai, Akira</creator><creator>Yamamoto, Masahiko</creator><creator>Doyu, Manabu</creator><creator>Yoshida, Mari</creator><creator>Hashizume, Yoshio</creator><creator>Terao, Shin-ichi</creator><creator>Mitsuma, Terunori</creator><creator>Sobue, Gen</creator><general>Elsevier Inc</general><general>University of Chicago Press</general><general>The American Society of Human Genetics</general><scope>6I.</scope><scope>AAFTH</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>19991001</creationdate><title>Tissue-Specific Somatic Mosaicism in Spinal and Bulbar Muscular Atrophy Is Dependent on CAG-Repeat Length and Androgen Receptor–Gene Expression Level</title><author>Tanaka, Fumiaki ; Reeves, Matthew F. ; Ito, Yasuhiro ; Matsumoto, Michiyo ; Li, Mei ; Miwa, Shigeru ; Inukai, Akira ; Yamamoto, Masahiko ; Doyu, Manabu ; Yoshida, Mari ; Hashizume, Yoshio ; Terao, Shin-ichi ; Mitsuma, Terunori ; Sobue, Gen</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c498t-b8587766abf12794b3bd760ea56c655eb7ba9f46132565a7ba360458b381ed483</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Aging - genetics</topic><topic>Alleles</topic><topic>Androgen receptor gene expression</topic><topic>Biological and medical sciences</topic><topic>CAG repeat</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>DRPLA</topic><topic>Gene Expression</topic><topic>Humans</topic><topic>Huntington disease</topic><topic>Huntington Disease - genetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Mitosis</topic><topic>Molecular Sequence Data</topic><topic>Mosaicism - genetics</topic><topic>Muscle, Skeletal - metabolism</topic><topic>Muscle, Skeletal - pathology</topic><topic>Muscular Disorders, Atrophic - genetics</topic><topic>Muscular Disorders, Atrophic - pathology</topic><topic>Myocardium - metabolism</topic><topic>Myocardium - pathology</topic><topic>Myoclonic Epilepsies, Progressive - genetics</topic><topic>Neurology</topic><topic>Organ Specificity</topic><topic>Prostate - metabolism</topic><topic>Prostate - pathology</topic><topic>Receptors, Androgen - genetics</topic><topic>SBMA</topic><topic>Skin - metabolism</topic><topic>Skin - pathology</topic><topic>Somatic mosaicism</topic><topic>Testis - metabolism</topic><topic>Testis - pathology</topic><topic>Trinucleotide Repeat Expansion - genetics</topic><topic>Trinucleotide Repeats - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tanaka, Fumiaki</creatorcontrib><creatorcontrib>Reeves, Matthew F.</creatorcontrib><creatorcontrib>Ito, Yasuhiro</creatorcontrib><creatorcontrib>Matsumoto, Michiyo</creatorcontrib><creatorcontrib>Li, Mei</creatorcontrib><creatorcontrib>Miwa, Shigeru</creatorcontrib><creatorcontrib>Inukai, Akira</creatorcontrib><creatorcontrib>Yamamoto, Masahiko</creatorcontrib><creatorcontrib>Doyu, Manabu</creatorcontrib><creatorcontrib>Yoshida, Mari</creatorcontrib><creatorcontrib>Hashizume, Yoshio</creatorcontrib><creatorcontrib>Terao, Shin-ichi</creatorcontrib><creatorcontrib>Mitsuma, Terunori</creatorcontrib><creatorcontrib>Sobue, Gen</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>American journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tanaka, Fumiaki</au><au>Reeves, Matthew F.</au><au>Ito, Yasuhiro</au><au>Matsumoto, Michiyo</au><au>Li, Mei</au><au>Miwa, Shigeru</au><au>Inukai, Akira</au><au>Yamamoto, Masahiko</au><au>Doyu, Manabu</au><au>Yoshida, Mari</au><au>Hashizume, Yoshio</au><au>Terao, Shin-ichi</au><au>Mitsuma, Terunori</au><au>Sobue, Gen</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Tissue-Specific Somatic Mosaicism in Spinal and Bulbar Muscular Atrophy Is Dependent on CAG-Repeat Length and Androgen Receptor–Gene Expression Level</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>1999-10-01</date><risdate>1999</risdate><volume>65</volume><issue>4</issue><spage>966</spage><epage>973</epage><pages>966-973</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><abstract>The factors influencing the tissue-specific pattern of somatic mosaicism in CAG-repeat diseases have not yet been fully resolved. We performed a detailed analysis of the degree of somatic mosaicism in various tissues from 20 patients with spinal and bulbar muscular atrophy (SBMA), including 4 who were deceased. The most outstanding feature was the prominent somatic mosaicism observed in the cardiac and skeletal muscles, composed predominantly of postmitotic cells, and in the skin, prostate, and testis. The CNS tissues, liver, and spleen showed the least mosaicism. The tissue distribution of somatic mosaicism in patients with SBMA was markedly different from that in patients with Huntington disease (HD) and from that in patients with dentatorubral-pallidoluysian atrophy (DRPLA). The degree of somatic mosaicism correlated with the CAG-repeat number but not with age at examination. Furthermore, tissues with a higher mosaicism level corresponded well to those with a higher expression level of androgen receptor protein. The tissue-specific pattern of somatic mosaicism related not only to cell composition with different cell turnover rates but to repeat size and gene expression levels, and postnatal cell division is unlikely to be a major cause of somatic mosaicism probably because of the relative stability of CAG repeat in SBMA.</abstract><cop>Chicago, IL</cop><pub>Elsevier Inc</pub><pmid>10486315</pmid><doi>10.1086/302578</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adult Aged Aging - genetics Alleles Androgen receptor gene expression Biological and medical sciences CAG repeat Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DRPLA Gene Expression Humans Huntington disease Huntington Disease - genetics Male Medical sciences Middle Aged Mitosis Molecular Sequence Data Mosaicism - genetics Muscle, Skeletal - metabolism Muscle, Skeletal - pathology Muscular Disorders, Atrophic - genetics Muscular Disorders, Atrophic - pathology Myocardium - metabolism Myocardium - pathology Myoclonic Epilepsies, Progressive - genetics Neurology Organ Specificity Prostate - metabolism Prostate - pathology Receptors, Androgen - genetics SBMA Skin - metabolism Skin - pathology Somatic mosaicism Testis - metabolism Testis - pathology Trinucleotide Repeat Expansion - genetics Trinucleotide Repeats - genetics |
| title | Tissue-Specific Somatic Mosaicism in Spinal and Bulbar Muscular Atrophy Is Dependent on CAG-Repeat Length and Androgen Receptor–Gene Expression Level |
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