Cleft Lip and/or Palate with Monogenic Autosomal Recessive Transmission in Pyrenees Shepherd Dogs
Objective: To document the genetic background of Pyrenees shepherd dogs as it relates to the incidence of cleft lip and/or cleft palate, to describe the phenotype, and to determine possible candidate genes. Design: Pedigree analysis was performed and blood samples were taken from five affected pups,...
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| Veröffentlicht in: | The Cleft palate-craniofacial journal 2009-01, Vol.46 (1), p.81-88 |
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| container_title | The Cleft palate-craniofacial journal |
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| creator | Kemp, Cordula Thiele, Holger Dankof, Anja Schmidt, Gül Lauster, Carola Fernahl, Gabriele Lauster, Roland |
| description | Objective:
To document the genetic background of Pyrenees shepherd dogs as it relates to the incidence of cleft lip and/or cleft palate, to describe the phenotype, and to determine possible candidate genes.
Design:
Pedigree analysis was performed and blood samples were taken from five affected pups, their siblings, and parents. Seven candidate genes were selected and linkage analysis was performed. Further methods used included sequencing and histology.
Results:
In 37 litters consisting of 163 pups, we found 47 affected pups in a total population of 2104. The male:female ratio was 1:0.96. Affected pups showed isolated cleft lip and/or cleft palate; no attendant disorders have been reported. Despite a high degree of relationship, two affected pups displayed a cleft palate (– H S H –) and a cleft lip with or without cleft palate (L A —) cleft formation. Histology of affected pups showed that the medial edge epithelium remained intact and did not undergo an epithelial-mesenchymal transformation. There was no evidence for linkage between the trait and TGFb3 or Msx1. Subsequent sequencing excluded the coding sequence of Fst as well.
Conclusion:
Pedigree analysis showed that cleft palate is not genetically distinct from cleft lip with or without cleft palate but is inherited in this breed as a monogenic autosomal recessive trait. Linkage analysis and sequencing excluded TGFb3, Msx1, and Fst as candidate genes. Histology of affected pups showed that the medial edge epithelium is still intact. |
| doi_str_mv | 10.1597/06-229.1 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_66785269</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sage_id>10.1597_06-229.1</sage_id><sourcerecordid>66785269</sourcerecordid><originalsourceid>FETCH-LOGICAL-c368t-7150ac1ddf2161bfe9985577d8475692aec431e956c6865ff84555324c77a86a3</originalsourceid><addsrcrecordid>eNpl0F1rFDEUBuAgiv1Q8BdIEBRvps3JzsnHZVmtCisWrdchzZzZnTKbbJMZpf_elC4u6FUSeDh5z8vYKxBngFafC9VIac_gCTsGbLEBVPZpvQvERilUR-yklFshJII0z9kRWADURh8zvxypn_hq2HEfu_OU-ZUf_UT89zBt-NcU05riEPjFPKWStn7k3ylQKcMv4tfZx7Id6iNFPkR-dZ8pEhX-Y0O7DeWOf0jr8oI96_1Y6OX-PGU_Lz9eLz83q2-fviwvVk1YKDM1GlD4AF3XS1Bw05O1BlHrzrS6biM9hXYBZFEFZRT2vWkRcSHboLU3yi9O2bvHubuc7mYqk6vRAo2jj5Tm4pTSBqWyFb75B96mOceazUnRWrBWP6D3jyjkVEqm3u3ysPX53oFwD507oVzt3EGlr_fz5pstdQe4L7mCt3vgS_BjX2sLQ_nrJIhWtQAHV_yaDqH--_APcJSStA</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>204919979</pqid></control><display><type>article</type><title>Cleft Lip and/or Palate with Monogenic Autosomal Recessive Transmission in Pyrenees Shepherd Dogs</title><source>MEDLINE</source><source>SAGE Journals</source><creator>Kemp, Cordula ; Thiele, Holger ; Dankof, Anja ; Schmidt, Gül ; Lauster, Carola ; Fernahl, Gabriele ; Lauster, Roland</creator><creatorcontrib>Kemp, Cordula ; Thiele, Holger ; Dankof, Anja ; Schmidt, Gül ; Lauster, Carola ; Fernahl, Gabriele ; Lauster, Roland</creatorcontrib><description>Objective:
To document the genetic background of Pyrenees shepherd dogs as it relates to the incidence of cleft lip and/or cleft palate, to describe the phenotype, and to determine possible candidate genes.
Design:
Pedigree analysis was performed and blood samples were taken from five affected pups, their siblings, and parents. Seven candidate genes were selected and linkage analysis was performed. Further methods used included sequencing and histology.
Results:
In 37 litters consisting of 163 pups, we found 47 affected pups in a total population of 2104. The male:female ratio was 1:0.96. Affected pups showed isolated cleft lip and/or cleft palate; no attendant disorders have been reported. Despite a high degree of relationship, two affected pups displayed a cleft palate (– H S H –) and a cleft lip with or without cleft palate (L A —) cleft formation. Histology of affected pups showed that the medial edge epithelium remained intact and did not undergo an epithelial-mesenchymal transformation. There was no evidence for linkage between the trait and TGFb3 or Msx1. Subsequent sequencing excluded the coding sequence of Fst as well.
Conclusion:
Pedigree analysis showed that cleft palate is not genetically distinct from cleft lip with or without cleft palate but is inherited in this breed as a monogenic autosomal recessive trait. Linkage analysis and sequencing excluded TGFb3, Msx1, and Fst as candidate genes. Histology of affected pups showed that the medial edge epithelium is still intact.</description><identifier>ISSN: 1055-6656</identifier><identifier>EISSN: 1545-1569</identifier><identifier>DOI: 10.1597/06-229.1</identifier><identifier>PMID: 19115787</identifier><identifier>CODEN: CPJOEG</identifier><language>eng</language><publisher>Los Angeles, CA: SAGE Publications</publisher><subject>Animals ; Biological and medical sciences ; Cleft Lip - genetics ; Cleft Lip - veterinary ; Cleft Palate - genetics ; Cleft Palate - veterinary ; Deformities ; Dentistry ; Dog Diseases - genetics ; Dogs ; Facial bones, jaws, teeth, parodontium: diseases, semeiology ; Female ; Follistatin - genetics ; Genes, Recessive ; Genetic Linkage ; Homeodomain Proteins - genetics ; Inhibin-beta Subunits - genetics ; LIM-Homeodomain Proteins ; Male ; Medical sciences ; MSX1 Transcription Factor - genetics ; Non tumoral diseases ; Otorhinolaryngology. Stomatology ; Pedigree ; Phenotype ; Snail Family Transcription Factors ; Studies ; Transcription Factors - genetics ; Transforming Growth Factor beta3 - genetics</subject><ispartof>The Cleft palate-craniofacial journal, 2009-01, Vol.46 (1), p.81-88</ispartof><rights>2009 American Cleft Palate-Craniofacial Association</rights><rights>2009 INIST-CNRS</rights><rights>Copyright Allen Press Publishing Services Jan 2009</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c368t-7150ac1ddf2161bfe9985577d8475692aec431e956c6865ff84555324c77a86a3</citedby><cites>FETCH-LOGICAL-c368t-7150ac1ddf2161bfe9985577d8475692aec431e956c6865ff84555324c77a86a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://journals.sagepub.com/doi/pdf/10.1597/06-229.1$$EPDF$$P50$$Gsage$$H</linktopdf><linktohtml>$$Uhttps://journals.sagepub.com/doi/10.1597/06-229.1$$EHTML$$P50$$Gsage$$H</linktohtml><link.rule.ids>314,777,781,4010,21800,27904,27905,27906,43602,43603</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=21046411$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19115787$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kemp, Cordula</creatorcontrib><creatorcontrib>Thiele, Holger</creatorcontrib><creatorcontrib>Dankof, Anja</creatorcontrib><creatorcontrib>Schmidt, Gül</creatorcontrib><creatorcontrib>Lauster, Carola</creatorcontrib><creatorcontrib>Fernahl, Gabriele</creatorcontrib><creatorcontrib>Lauster, Roland</creatorcontrib><title>Cleft Lip and/or Palate with Monogenic Autosomal Recessive Transmission in Pyrenees Shepherd Dogs</title><title>The Cleft palate-craniofacial journal</title><addtitle>Cleft Palate Craniofac J</addtitle><description>Objective:
To document the genetic background of Pyrenees shepherd dogs as it relates to the incidence of cleft lip and/or cleft palate, to describe the phenotype, and to determine possible candidate genes.
Design:
Pedigree analysis was performed and blood samples were taken from five affected pups, their siblings, and parents. Seven candidate genes were selected and linkage analysis was performed. Further methods used included sequencing and histology.
Results:
In 37 litters consisting of 163 pups, we found 47 affected pups in a total population of 2104. The male:female ratio was 1:0.96. Affected pups showed isolated cleft lip and/or cleft palate; no attendant disorders have been reported. Despite a high degree of relationship, two affected pups displayed a cleft palate (– H S H –) and a cleft lip with or without cleft palate (L A —) cleft formation. Histology of affected pups showed that the medial edge epithelium remained intact and did not undergo an epithelial-mesenchymal transformation. There was no evidence for linkage between the trait and TGFb3 or Msx1. Subsequent sequencing excluded the coding sequence of Fst as well.
Conclusion:
Pedigree analysis showed that cleft palate is not genetically distinct from cleft lip with or without cleft palate but is inherited in this breed as a monogenic autosomal recessive trait. Linkage analysis and sequencing excluded TGFb3, Msx1, and Fst as candidate genes. Histology of affected pups showed that the medial edge epithelium is still intact.</description><subject>Animals</subject><subject>Biological and medical sciences</subject><subject>Cleft Lip - genetics</subject><subject>Cleft Lip - veterinary</subject><subject>Cleft Palate - genetics</subject><subject>Cleft Palate - veterinary</subject><subject>Deformities</subject><subject>Dentistry</subject><subject>Dog Diseases - genetics</subject><subject>Dogs</subject><subject>Facial bones, jaws, teeth, parodontium: diseases, semeiology</subject><subject>Female</subject><subject>Follistatin - genetics</subject><subject>Genes, Recessive</subject><subject>Genetic Linkage</subject><subject>Homeodomain Proteins - genetics</subject><subject>Inhibin-beta Subunits - genetics</subject><subject>LIM-Homeodomain Proteins</subject><subject>Male</subject><subject>Medical sciences</subject><subject>MSX1 Transcription Factor - genetics</subject><subject>Non tumoral diseases</subject><subject>Otorhinolaryngology. Stomatology</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Snail Family Transcription Factors</subject><subject>Studies</subject><subject>Transcription Factors - genetics</subject><subject>Transforming Growth Factor beta3 - genetics</subject><issn>1055-6656</issn><issn>1545-1569</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNpl0F1rFDEUBuAgiv1Q8BdIEBRvps3JzsnHZVmtCisWrdchzZzZnTKbbJMZpf_elC4u6FUSeDh5z8vYKxBngFafC9VIac_gCTsGbLEBVPZpvQvERilUR-yklFshJII0z9kRWADURh8zvxypn_hq2HEfu_OU-ZUf_UT89zBt-NcU05riEPjFPKWStn7k3ylQKcMv4tfZx7Id6iNFPkR-dZ8pEhX-Y0O7DeWOf0jr8oI96_1Y6OX-PGU_Lz9eLz83q2-fviwvVk1YKDM1GlD4AF3XS1Bw05O1BlHrzrS6biM9hXYBZFEFZRT2vWkRcSHboLU3yi9O2bvHubuc7mYqk6vRAo2jj5Tm4pTSBqWyFb75B96mOceazUnRWrBWP6D3jyjkVEqm3u3ysPX53oFwD507oVzt3EGlr_fz5pstdQe4L7mCt3vgS_BjX2sLQ_nrJIhWtQAHV_yaDqH--_APcJSStA</recordid><startdate>200901</startdate><enddate>200901</enddate><creator>Kemp, Cordula</creator><creator>Thiele, Holger</creator><creator>Dankof, Anja</creator><creator>Schmidt, Gül</creator><creator>Lauster, Carola</creator><creator>Fernahl, Gabriele</creator><creator>Lauster, Roland</creator><general>SAGE Publications</general><general>American Cleft Palate-Craniofacial Association</general><general>SAGE PUBLICATIONS, INC</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>3V.</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88G</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8FQ</scope><scope>8FV</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>K9.</scope><scope>KB0</scope><scope>M0S</scope><scope>M1P</scope><scope>M2M</scope><scope>M3G</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7X8</scope></search><sort><creationdate>200901</creationdate><title>Cleft Lip and/or Palate with Monogenic Autosomal Recessive Transmission in Pyrenees Shepherd Dogs</title><author>Kemp, Cordula ; Thiele, Holger ; Dankof, Anja ; Schmidt, Gül ; Lauster, Carola ; Fernahl, Gabriele ; Lauster, Roland</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c368t-7150ac1ddf2161bfe9985577d8475692aec431e956c6865ff84555324c77a86a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Animals</topic><topic>Biological and medical sciences</topic><topic>Cleft Lip - genetics</topic><topic>Cleft Lip - veterinary</topic><topic>Cleft Palate - genetics</topic><topic>Cleft Palate - veterinary</topic><topic>Deformities</topic><topic>Dentistry</topic><topic>Dog Diseases - genetics</topic><topic>Dogs</topic><topic>Facial bones, jaws, teeth, parodontium: diseases, semeiology</topic><topic>Female</topic><topic>Follistatin - genetics</topic><topic>Genes, Recessive</topic><topic>Genetic Linkage</topic><topic>Homeodomain Proteins - genetics</topic><topic>Inhibin-beta Subunits - genetics</topic><topic>LIM-Homeodomain Proteins</topic><topic>Male</topic><topic>Medical sciences</topic><topic>MSX1 Transcription Factor - genetics</topic><topic>Non tumoral diseases</topic><topic>Otorhinolaryngology. Stomatology</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Snail Family Transcription Factors</topic><topic>Studies</topic><topic>Transcription Factors - genetics</topic><topic>Transforming Growth Factor beta3 - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kemp, Cordula</creatorcontrib><creatorcontrib>Thiele, Holger</creatorcontrib><creatorcontrib>Dankof, Anja</creatorcontrib><creatorcontrib>Schmidt, Gül</creatorcontrib><creatorcontrib>Lauster, Carola</creatorcontrib><creatorcontrib>Fernahl, Gabriele</creatorcontrib><creatorcontrib>Lauster, Roland</creatorcontrib><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>ProQuest Central (Corporate)</collection><collection>Nursing & Allied Health Database</collection><collection>ProQuest Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Psychology Database (Alumni)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Canadian Business & Current Affairs Database (CBCA)</collection><collection>Canadian Business & Current Affairs Database (Alumni Edition)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Psychology Database</collection><collection>CBCA Reference & Current Events</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><jtitle>The Cleft palate-craniofacial journal</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kemp, Cordula</au><au>Thiele, Holger</au><au>Dankof, Anja</au><au>Schmidt, Gül</au><au>Lauster, Carola</au><au>Fernahl, Gabriele</au><au>Lauster, Roland</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Cleft Lip and/or Palate with Monogenic Autosomal Recessive Transmission in Pyrenees Shepherd Dogs</atitle><jtitle>The Cleft palate-craniofacial journal</jtitle><addtitle>Cleft Palate Craniofac J</addtitle><date>2009-01</date><risdate>2009</risdate><volume>46</volume><issue>1</issue><spage>81</spage><epage>88</epage><pages>81-88</pages><issn>1055-6656</issn><eissn>1545-1569</eissn><coden>CPJOEG</coden><abstract>Objective:
To document the genetic background of Pyrenees shepherd dogs as it relates to the incidence of cleft lip and/or cleft palate, to describe the phenotype, and to determine possible candidate genes.
Design:
Pedigree analysis was performed and blood samples were taken from five affected pups, their siblings, and parents. Seven candidate genes were selected and linkage analysis was performed. Further methods used included sequencing and histology.
Results:
In 37 litters consisting of 163 pups, we found 47 affected pups in a total population of 2104. The male:female ratio was 1:0.96. Affected pups showed isolated cleft lip and/or cleft palate; no attendant disorders have been reported. Despite a high degree of relationship, two affected pups displayed a cleft palate (– H S H –) and a cleft lip with or without cleft palate (L A —) cleft formation. Histology of affected pups showed that the medial edge epithelium remained intact and did not undergo an epithelial-mesenchymal transformation. There was no evidence for linkage between the trait and TGFb3 or Msx1. Subsequent sequencing excluded the coding sequence of Fst as well.
Conclusion:
Pedigree analysis showed that cleft palate is not genetically distinct from cleft lip with or without cleft palate but is inherited in this breed as a monogenic autosomal recessive trait. Linkage analysis and sequencing excluded TGFb3, Msx1, and Fst as candidate genes. Histology of affected pups showed that the medial edge epithelium is still intact.</abstract><cop>Los Angeles, CA</cop><pub>SAGE Publications</pub><pmid>19115787</pmid><doi>10.1597/06-229.1</doi><tpages>8</tpages></addata></record> |
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| identifier | ISSN: 1055-6656 |
| ispartof | The Cleft palate-craniofacial journal, 2009-01, Vol.46 (1), p.81-88 |
| issn | 1055-6656 1545-1569 |
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| source | MEDLINE; SAGE Journals |
| subjects | Animals Biological and medical sciences Cleft Lip - genetics Cleft Lip - veterinary Cleft Palate - genetics Cleft Palate - veterinary Deformities Dentistry Dog Diseases - genetics Dogs Facial bones, jaws, teeth, parodontium: diseases, semeiology Female Follistatin - genetics Genes, Recessive Genetic Linkage Homeodomain Proteins - genetics Inhibin-beta Subunits - genetics LIM-Homeodomain Proteins Male Medical sciences MSX1 Transcription Factor - genetics Non tumoral diseases Otorhinolaryngology. Stomatology Pedigree Phenotype Snail Family Transcription Factors Studies Transcription Factors - genetics Transforming Growth Factor beta3 - genetics |
| title | Cleft Lip and/or Palate with Monogenic Autosomal Recessive Transmission in Pyrenees Shepherd Dogs |
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