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Characterization of the canine desmin ( DES) gene and evaluation as a candidate gene for dilated cardiomyopathy in the Dobermann
Canine-dilated cardiomyopathy (DCM) in dogs is a disease of the myocardium associated with dilatation and impaired contraction of the ventricles and is suspected to have a genetic cause. A missense mutation in the desmin gene ( DES) causes DCM in a human family. Human DCM closely resembles the canin...
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| Published in: | Gene 2004-10, Vol.340 (2), p.241-249 |
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| cites | cdi_FETCH-LOGICAL-c383t-e6f19432cc5f930d0ee078b3d05809660a455b8b2f8a07d9d5ca3772af0f27eb3 |
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| container_title | Gene |
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| creator | Stabej, Polona Imholz, Sandra Versteeg, Serge A. Zijlstra, Carla Stokhof, Arnold A. Domanjko-Petrič, Aleksandra Leegwater, Peter A.J. van Oost, Bernard A. |
| description | Canine-dilated cardiomyopathy (DCM) in dogs is a disease of the myocardium associated with dilatation and impaired contraction of the ventricles and is suspected to have a genetic cause. A missense mutation in the desmin gene (
DES) causes DCM in a human family. Human DCM closely resembles the canine disease. In the present study, we evaluated whether
DES gene mutations are responsible for DCM in Dobermann dogs. We have isolated bacterial artificial chromosome clones (BACs) containing the canine
DES gene and determined the chromosomal location by fluorescence in situ hybrizidation (FISH). Using data deposited in the NCBI trace archive and GenBank, the canine
DES gene DNA sequence was assembled and seven single nucleotide polymorphisms (SNPs) were identified. From the canine
DES gene BAC clones, a polymorphic microsatellite marker was isolated. The microsatellite marker and four informative desmin SNPs were typed in a Dobermann family with frequent DCM occurrence, but the disease phenotype did not associate with a desmin haplotype.
We concluded that mutations in the
DES gene do not play a role in Dobermann DCM. Availability of the microsatellite marker, SNPs and DNA sequence reported in this study enable fast evaluation of the
DES gene as a DCM candidate gene in other dog breeds with DCM occurrence. |
| doi_str_mv | 10.1016/j.gene.2004.06.050 |
| format | article |
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DES) causes DCM in a human family. Human DCM closely resembles the canine disease. In the present study, we evaluated whether
DES gene mutations are responsible for DCM in Dobermann dogs. We have isolated bacterial artificial chromosome clones (BACs) containing the canine
DES gene and determined the chromosomal location by fluorescence in situ hybrizidation (FISH). Using data deposited in the NCBI trace archive and GenBank, the canine
DES gene DNA sequence was assembled and seven single nucleotide polymorphisms (SNPs) were identified. From the canine
DES gene BAC clones, a polymorphic microsatellite marker was isolated. The microsatellite marker and four informative desmin SNPs were typed in a Dobermann family with frequent DCM occurrence, but the disease phenotype did not associate with a desmin haplotype.
We concluded that mutations in the
DES gene do not play a role in Dobermann DCM. Availability of the microsatellite marker, SNPs and DNA sequence reported in this study enable fast evaluation of the
DES gene as a DCM candidate gene in other dog breeds with DCM occurrence.</description><identifier>ISSN: 0378-1119</identifier><identifier>EISSN: 1879-0038</identifier><identifier>DOI: 10.1016/j.gene.2004.06.050</identifier><identifier>PMID: 15475165</identifier><language>eng</language><publisher>Netherlands: Elsevier B.V</publisher><subject>Animals ; BAC clone ; Cardiomyopathy, Dilated - genetics ; Cardiomyopathy, Dilated - veterinary ; Chromosome Mapping ; Chromosomes, Artificial, Bacterial - genetics ; Chromosomes, Mammalian - genetics ; Cloning, Molecular ; Desmin - genetics ; DNA - chemistry ; DNA - genetics ; DNA - isolation & purification ; Dog Diseases - genetics ; Dogs - genetics ; Female ; FISH ; Genetic Predisposition to Disease - genetics ; Haplotypes ; Heart disease ; In Situ Hybridization, Fluorescence ; Male ; Microsatellite marker ; Microsatellite Repeats ; Molecular Sequence Data ; Mutation ; Pedigree ; Polymorphism, Single Nucleotide ; Sequence ; Sequence Analysis, DNA ; SNP</subject><ispartof>Gene, 2004-10, Vol.340 (2), p.241-249</ispartof><rights>2004 Elsevier B.V.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c383t-e6f19432cc5f930d0ee078b3d05809660a455b8b2f8a07d9d5ca3772af0f27eb3</citedby><cites>FETCH-LOGICAL-c383t-e6f19432cc5f930d0ee078b3d05809660a455b8b2f8a07d9d5ca3772af0f27eb3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,786,790,27957,27958</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15475165$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Stabej, Polona</creatorcontrib><creatorcontrib>Imholz, Sandra</creatorcontrib><creatorcontrib>Versteeg, Serge A.</creatorcontrib><creatorcontrib>Zijlstra, Carla</creatorcontrib><creatorcontrib>Stokhof, Arnold A.</creatorcontrib><creatorcontrib>Domanjko-Petrič, Aleksandra</creatorcontrib><creatorcontrib>Leegwater, Peter A.J.</creatorcontrib><creatorcontrib>van Oost, Bernard A.</creatorcontrib><title>Characterization of the canine desmin ( DES) gene and evaluation as a candidate gene for dilated cardiomyopathy in the Dobermann</title><title>Gene</title><addtitle>Gene</addtitle><description>Canine-dilated cardiomyopathy (DCM) in dogs is a disease of the myocardium associated with dilatation and impaired contraction of the ventricles and is suspected to have a genetic cause. A missense mutation in the desmin gene (
DES) causes DCM in a human family. Human DCM closely resembles the canine disease. In the present study, we evaluated whether
DES gene mutations are responsible for DCM in Dobermann dogs. We have isolated bacterial artificial chromosome clones (BACs) containing the canine
DES gene and determined the chromosomal location by fluorescence in situ hybrizidation (FISH). Using data deposited in the NCBI trace archive and GenBank, the canine
DES gene DNA sequence was assembled and seven single nucleotide polymorphisms (SNPs) were identified. From the canine
DES gene BAC clones, a polymorphic microsatellite marker was isolated. The microsatellite marker and four informative desmin SNPs were typed in a Dobermann family with frequent DCM occurrence, but the disease phenotype did not associate with a desmin haplotype.
We concluded that mutations in the
DES gene do not play a role in Dobermann DCM. Availability of the microsatellite marker, SNPs and DNA sequence reported in this study enable fast evaluation of the
DES gene as a DCM candidate gene in other dog breeds with DCM occurrence.</description><subject>Animals</subject><subject>BAC clone</subject><subject>Cardiomyopathy, Dilated - genetics</subject><subject>Cardiomyopathy, Dilated - veterinary</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Artificial, Bacterial - genetics</subject><subject>Chromosomes, Mammalian - genetics</subject><subject>Cloning, Molecular</subject><subject>Desmin - genetics</subject><subject>DNA - chemistry</subject><subject>DNA - genetics</subject><subject>DNA - isolation & purification</subject><subject>Dog Diseases - genetics</subject><subject>Dogs - genetics</subject><subject>Female</subject><subject>FISH</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Haplotypes</subject><subject>Heart disease</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Male</subject><subject>Microsatellite marker</subject><subject>Microsatellite Repeats</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Pedigree</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Sequence</subject><subject>Sequence Analysis, DNA</subject><subject>SNP</subject><issn>0378-1119</issn><issn>1879-0038</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><recordid>eNqFkU1r3DAQhkVpaLZp_0APRafSHuyMLMuyoZewST8gkEPas5ClcVeLLW0lb2B76k-vjBd6a3UZxDzzDMxLyBsGJQPWXO_LH-ixrADqEpoSBDwjG9bKrgDg7XOyAS7bgjHWXZKXKe0hPyGqF-SSiVoK1ogN-b3d6ajNjNH90rMLnoaBzjukRnvnkVpMk_P0Pb29e_xAl31Ue0vxSY_HldeJ6oW2zuoZV2QIkVo35r_NrWhdmE7hoOfdiWbZor8NPcZJe_-KXAx6TPj6XK_I909337ZfivuHz1-3N_eF4S2fC2wG1tW8MkYMHQcLiCDbnlsQLXRNA7oWom_7amg1SNtZYTSXstIDDJXEnl-Rd6v3EMPPI6ZZTS4ZHEftMRyTappOtFUt_gsymbWykxmsVtDEkFLEQR2im3Q8KQZqCUjt1XINtQSkoFE5oDz09mw_9hPavyPnRDLwcQUwH-PJYVTJOPQGrYtoZmWD-5f_D1vzogo</recordid><startdate>20041013</startdate><enddate>20041013</enddate><creator>Stabej, Polona</creator><creator>Imholz, Sandra</creator><creator>Versteeg, Serge A.</creator><creator>Zijlstra, Carla</creator><creator>Stokhof, Arnold A.</creator><creator>Domanjko-Petrič, Aleksandra</creator><creator>Leegwater, Peter A.J.</creator><creator>van Oost, Bernard A.</creator><general>Elsevier B.V</general><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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20041013</creationdate><title>Characterization of the canine desmin ( DES) gene and evaluation as a candidate gene for dilated cardiomyopathy in the Dobermann</title><author>Stabej, Polona ; Imholz, Sandra ; Versteeg, Serge A. ; Zijlstra, Carla ; Stokhof, Arnold A. ; Domanjko-Petrič, Aleksandra ; Leegwater, Peter A.J. ; van Oost, Bernard A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c383t-e6f19432cc5f930d0ee078b3d05809660a455b8b2f8a07d9d5ca3772af0f27eb3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Animals</topic><topic>BAC clone</topic><topic>Cardiomyopathy, Dilated - genetics</topic><topic>Cardiomyopathy, Dilated - veterinary</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Artificial, Bacterial - genetics</topic><topic>Chromosomes, Mammalian - genetics</topic><topic>Cloning, Molecular</topic><topic>Desmin - genetics</topic><topic>DNA - chemistry</topic><topic>DNA - genetics</topic><topic>DNA - isolation & purification</topic><topic>Dog Diseases - genetics</topic><topic>Dogs - genetics</topic><topic>Female</topic><topic>FISH</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Haplotypes</topic><topic>Heart disease</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Male</topic><topic>Microsatellite marker</topic><topic>Microsatellite Repeats</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>Pedigree</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Sequence</topic><topic>Sequence Analysis, DNA</topic><topic>SNP</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Stabej, Polona</creatorcontrib><creatorcontrib>Imholz, Sandra</creatorcontrib><creatorcontrib>Versteeg, Serge A.</creatorcontrib><creatorcontrib>Zijlstra, Carla</creatorcontrib><creatorcontrib>Stokhof, Arnold A.</creatorcontrib><creatorcontrib>Domanjko-Petrič, Aleksandra</creatorcontrib><creatorcontrib>Leegwater, Peter A.J.</creatorcontrib><creatorcontrib>van Oost, Bernard A.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Gene</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Stabej, Polona</au><au>Imholz, Sandra</au><au>Versteeg, Serge A.</au><au>Zijlstra, Carla</au><au>Stokhof, Arnold A.</au><au>Domanjko-Petrič, Aleksandra</au><au>Leegwater, Peter A.J.</au><au>van Oost, Bernard A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Characterization of the canine desmin ( DES) gene and evaluation as a candidate gene for dilated cardiomyopathy in the Dobermann</atitle><jtitle>Gene</jtitle><addtitle>Gene</addtitle><date>2004-10-13</date><risdate>2004</risdate><volume>340</volume><issue>2</issue><spage>241</spage><epage>249</epage><pages>241-249</pages><issn>0378-1119</issn><eissn>1879-0038</eissn><notes>ObjectType-Article-1</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-2</notes><notes>content type line 23</notes><abstract>Canine-dilated cardiomyopathy (DCM) in dogs is a disease of the myocardium associated with dilatation and impaired contraction of the ventricles and is suspected to have a genetic cause. A missense mutation in the desmin gene (
DES) causes DCM in a human family. Human DCM closely resembles the canine disease. In the present study, we evaluated whether
DES gene mutations are responsible for DCM in Dobermann dogs. We have isolated bacterial artificial chromosome clones (BACs) containing the canine
DES gene and determined the chromosomal location by fluorescence in situ hybrizidation (FISH). Using data deposited in the NCBI trace archive and GenBank, the canine
DES gene DNA sequence was assembled and seven single nucleotide polymorphisms (SNPs) were identified. From the canine
DES gene BAC clones, a polymorphic microsatellite marker was isolated. The microsatellite marker and four informative desmin SNPs were typed in a Dobermann family with frequent DCM occurrence, but the disease phenotype did not associate with a desmin haplotype.
We concluded that mutations in the
DES gene do not play a role in Dobermann DCM. Availability of the microsatellite marker, SNPs and DNA sequence reported in this study enable fast evaluation of the
DES gene as a DCM candidate gene in other dog breeds with DCM occurrence.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>15475165</pmid><doi>10.1016/j.gene.2004.06.050</doi><tpages>9</tpages></addata></record> |
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| source | ScienceDirect Freedom Collection 2022-2024 |
| subjects | Animals BAC clone Cardiomyopathy, Dilated - genetics Cardiomyopathy, Dilated - veterinary Chromosome Mapping Chromosomes, Artificial, Bacterial - genetics Chromosomes, Mammalian - genetics Cloning, Molecular Desmin - genetics DNA - chemistry DNA - genetics DNA - isolation & purification Dog Diseases - genetics Dogs - genetics Female FISH Genetic Predisposition to Disease - genetics Haplotypes Heart disease In Situ Hybridization, Fluorescence Male Microsatellite marker Microsatellite Repeats Molecular Sequence Data Mutation Pedigree Polymorphism, Single Nucleotide Sequence Sequence Analysis, DNA SNP |
| title | Characterization of the canine desmin ( DES) gene and evaluation as a candidate gene for dilated cardiomyopathy in the Dobermann |
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