R-spondin1 is essential in sex determination, skin differentiation and malignancy
R-spondins are a recently characterized small family of growth factors. Here we show that human R-spondin1 (RSPO1) is the gene disrupted in a recessive syndrome characterized by XX sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin. Our data show, for...
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| Veröffentlicht in: | Nature genetics 2006-11, Vol.38 (11), p.1304-1309 |
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| container_issue | 11 |
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| container_title | Nature genetics |
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| creator | Guerra, Liliana Radi, Orietta Valentini, Stella Camerino, Giovanna Vidal, Valerie Dellambra, Elena Chaboissier, Marie Christine Schedl, Andreas Parma, Pietro |
| description | R-spondins are a recently characterized small family of growth factors. Here we show that human R-spondin1 (RSPO1) is the gene disrupted in a recessive syndrome characterized by XX sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin. Our data show, for the first time, that disruption of a single gene can lead to complete female-to-male sex reversal in the absence of the testis-determining gene, SRY. |
| doi_str_mv | 10.1038/ng1907 |
| format | Article |
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Here we show that human R-spondin1 (RSPO1) is the gene disrupted in a recessive syndrome characterized by XX sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin. Our data show, for the first time, that disruption of a single gene can lead to complete female-to-male sex reversal in the absence of the testis-determining gene, SRY.</description><identifier>ISSN: 1061-4036</identifier><identifier>EISSN: 1546-1718</identifier><identifier>DOI: 10.1038/ng1907</identifier><identifier>PMID: 17041600</identifier><identifier>CODEN: NGENEC</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>Agriculture ; Animal Genetics and Genomics ; Animals ; Biological and medical sciences ; Biomedical and Life Sciences ; Biomedicine ; Cancer Research ; Carcinoma, Squamous Cell - genetics ; Cell Differentiation - genetics ; Cells, Cultured ; Chromosome Aberrations ; Chromosomes ; Complications and side effects ; Diagnosis ; Disorders of Sex Development ; DNA Mutational Analysis ; Female ; Fundamental and applied biological sciences. Psychology ; Gender ; Gene Function ; Gene mutations ; Genetic aspects ; Genetic Predisposition to Disease ; Genetic screening ; Genetics ; Genetics of eukaryotes. Biological and molecular evolution ; Growth factors ; Health aspects ; Human Genetics ; Humans ; Identification and classification ; Keratoderma, Palmoplantar - genetics ; letter ; Male ; Methods ; Mice ; Mice, Inbred C57BL ; Mice, Inbred CBA ; Mutation ; Pedigree ; Risk factors ; Sex Determination Processes ; Skin - cytology ; Skin - embryology ; Skin cancer ; Skin Neoplasms - genetics ; Squamous cell carcinoma ; Thrombospondins - genetics ; Thrombospondins - physiology</subject><ispartof>Nature genetics, 2006-11, Vol.38 (11), p.1304-1309</ispartof><rights>Springer Nature America, Inc. 2006</rights><rights>2006 INIST-CNRS</rights><rights>COPYRIGHT 2006 Nature Publishing Group</rights><rights>Copyright Nature Publishing Group Nov 2006</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c585t-156416d5766b2ad931824d63229c602150536eb25111c6ae8dec857cc6fea3123</citedby><cites>FETCH-LOGICAL-c585t-156416d5766b2ad931824d63229c602150536eb25111c6ae8dec857cc6fea3123</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/ng1907$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/ng1907$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,2727,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18248130$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17041600$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Guerra, Liliana</creatorcontrib><creatorcontrib>Radi, Orietta</creatorcontrib><creatorcontrib>Valentini, Stella</creatorcontrib><creatorcontrib>Camerino, Giovanna</creatorcontrib><creatorcontrib>Vidal, Valerie</creatorcontrib><creatorcontrib>Dellambra, Elena</creatorcontrib><creatorcontrib>Chaboissier, Marie Christine</creatorcontrib><creatorcontrib>Schedl, Andreas</creatorcontrib><creatorcontrib>Parma, Pietro</creatorcontrib><title>R-spondin1 is essential in sex determination, skin differentiation and malignancy</title><title>Nature genetics</title><addtitle>Nat Genet</addtitle><addtitle>Nat Genet</addtitle><description>R-spondins are a recently characterized small family of growth factors. Here we show that human R-spondin1 (RSPO1) is the gene disrupted in a recessive syndrome characterized by XX sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin. Our data show, for the first time, that disruption of a single gene can lead to complete female-to-male sex reversal in the absence of the testis-determining gene, SRY.</description><subject>Agriculture</subject><subject>Animal Genetics and Genomics</subject><subject>Animals</subject><subject>Biological and medical sciences</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cancer Research</subject><subject>Carcinoma, Squamous Cell - genetics</subject><subject>Cell Differentiation - genetics</subject><subject>Cells, Cultured</subject><subject>Chromosome Aberrations</subject><subject>Chromosomes</subject><subject>Complications and side effects</subject><subject>Diagnosis</subject><subject>Disorders of Sex Development</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gender</subject><subject>Gene Function</subject><subject>Gene mutations</subject><subject>Genetic aspects</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic screening</subject><subject>Genetics</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Growth factors</subject><subject>Health aspects</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Identification and classification</subject><subject>Keratoderma, Palmoplantar - genetics</subject><subject>letter</subject><subject>Male</subject><subject>Methods</subject><subject>Mice</subject><subject>Mice, Inbred C57BL</subject><subject>Mice, Inbred CBA</subject><subject>Mutation</subject><subject>Pedigree</subject><subject>Risk factors</subject><subject>Sex Determination Processes</subject><subject>Skin - cytology</subject><subject>Skin - embryology</subject><subject>Skin cancer</subject><subject>Skin Neoplasms - genetics</subject><subject>Squamous cell carcinoma</subject><subject>Thrombospondins - genetics</subject><subject>Thrombospondins - physiology</subject><issn>1061-4036</issn><issn>1546-1718</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqN0m1r1TAUAOAiinvTXyBSHCoDO3OSJk0_juHLYDCcL19DbnJaMtv0mrSw_XtTb_FyVVTyoeHkyUlPcrLsMZBTIEy-9i3UpLqX7QMvRQEVyPtpTgQUJWFiLzuI8YYQKEsiH2Z7UJESBCH72YfrIq4Hb52H3MUcY0Q_Ot3lzucRb3OLI4beeT26wb_K49cUt65pMPxwczTX3ua97lzrtTd3R9mDRncRHy3fw-zz2zefzt8Xl1fvLs7PLgvDJR8L4CL9guWVECuqbc1A0tIKRmltBKHACWcCV5QDgBEapUUjeWWMaFAzoOwwe7nJuw7DtwnjqHoXDXad9jhMUUlR1jxdzSxf_FWKmlBKGfsnhJoJqChJ8Nkv8GaYgk_lqpRJcFoRSOh4g1rdoXK-GcagzZxRnYFkrGZ1OavTP6g0LPbODB4bl-I7G052NiQz4u3Y6ilGdfHx-v_t1ZdduxRvwhBjwEatg-t1uFNA1NxjatNjCT5dip9WPdotW5oqgecL0NHorgmpLVzcuvTQEhjZvmBMS77FsL3F3458spGpD6eAP1Mty98BgkTpWQ</recordid><startdate>20061101</startdate><enddate>20061101</enddate><creator>Guerra, Liliana</creator><creator>Radi, Orietta</creator><creator>Valentini, Stella</creator><creator>Camerino, Giovanna</creator><creator>Vidal, Valerie</creator><creator>Dellambra, Elena</creator><creator>Chaboissier, Marie Christine</creator><creator>Schedl, Andreas</creator><creator>Parma, Pietro</creator><general>Nature Publishing Group US</general><general>Nature Publishing Group</general><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>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QL</scope><scope>7QP</scope><scope>7QR</scope><scope>7SS</scope><scope>7T7</scope><scope>7TK</scope><scope>7TM</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>M7N</scope><scope>M7P</scope><scope>MBDVC</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>Q9U</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20061101</creationdate><title>R-spondin1 is essential in sex determination, skin differentiation and malignancy</title><author>Guerra, Liliana ; Radi, Orietta ; Valentini, Stella ; Camerino, Giovanna ; Vidal, Valerie ; Dellambra, Elena ; Chaboissier, Marie Christine ; Schedl, Andreas ; Parma, Pietro</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c585t-156416d5766b2ad931824d63229c602150536eb25111c6ae8dec857cc6fea3123</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Agriculture</topic><topic>Animal Genetics and Genomics</topic><topic>Animals</topic><topic>Biological and medical sciences</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cancer Research</topic><topic>Carcinoma, Squamous Cell - genetics</topic><topic>Cell Differentiation - genetics</topic><topic>Cells, Cultured</topic><topic>Chromosome Aberrations</topic><topic>Chromosomes</topic><topic>Complications and side effects</topic><topic>Diagnosis</topic><topic>Disorders of Sex Development</topic><topic>DNA Mutational Analysis</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. 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Academic</collection><jtitle>Nature genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Guerra, Liliana</au><au>Radi, Orietta</au><au>Valentini, Stella</au><au>Camerino, Giovanna</au><au>Vidal, Valerie</au><au>Dellambra, Elena</au><au>Chaboissier, Marie Christine</au><au>Schedl, Andreas</au><au>Parma, Pietro</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>R-spondin1 is essential in sex determination, skin differentiation and malignancy</atitle><jtitle>Nature genetics</jtitle><stitle>Nat Genet</stitle><addtitle>Nat Genet</addtitle><date>2006-11-01</date><risdate>2006</risdate><volume>38</volume><issue>11</issue><spage>1304</spage><epage>1309</epage><pages>1304-1309</pages><issn>1061-4036</issn><eissn>1546-1718</eissn><coden>NGENEC</coden><abstract>R-spondins are a recently characterized small family of growth factors. Here we show that human R-spondin1 (RSPO1) is the gene disrupted in a recessive syndrome characterized by XX sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin. Our data show, for the first time, that disruption of a single gene can lead to complete female-to-male sex reversal in the absence of the testis-determining gene, SRY.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>17041600</pmid><doi>10.1038/ng1907</doi><tpages>6</tpages></addata></record> |
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| subjects | Agriculture Animal Genetics and Genomics Animals Biological and medical sciences Biomedical and Life Sciences Biomedicine Cancer Research Carcinoma, Squamous Cell - genetics Cell Differentiation - genetics Cells, Cultured Chromosome Aberrations Chromosomes Complications and side effects Diagnosis Disorders of Sex Development DNA Mutational Analysis Female Fundamental and applied biological sciences. Psychology Gender Gene Function Gene mutations Genetic aspects Genetic Predisposition to Disease Genetic screening Genetics Genetics of eukaryotes. Biological and molecular evolution Growth factors Health aspects Human Genetics Humans Identification and classification Keratoderma, Palmoplantar - genetics letter Male Methods Mice Mice, Inbred C57BL Mice, Inbred CBA Mutation Pedigree Risk factors Sex Determination Processes Skin - cytology Skin - embryology Skin cancer Skin Neoplasms - genetics Squamous cell carcinoma Thrombospondins - genetics Thrombospondins - physiology |
| title | R-spondin1 is essential in sex determination, skin differentiation and malignancy |
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