Analysis of the Pax-3 Gene in the Mouse Mutant Splotch
In a linkage analysis of Pax-3 and splotch no recombinations were found in 117 backcross mice. Molecular analysis of Pax-3 in three alleles of splotch shows a number of significant alterations to the Pax-3 gene. In Sp/Sp embryos, cDNA PCR analysis reveals a shortened transcript in which exon 4 of Pa...
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| Veröffentlicht in: | Genomics (San Diego, Calif.) Calif.), 1993-08, Vol.17 (2), p.355-363 |
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| container_title | Genomics (San Diego, Calif.) |
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| creator | Goulding, M. Sterrer, S. Fleming, J. Balling, R. Nadeau, J. Moore, K.J. Brown, S.D.M. Steel, K.P. Gruss, P. |
| description | In a linkage analysis of Pax-3 and splotch no recombinations were found in 117 backcross mice. Molecular analysis of Pax-3 in three alleles of splotch shows a number of significant alterations to the Pax-3 gene. In Sp/Sp embryos, cDNA PCR analysis reveals a shortened transcript in which exon 4 of Pax-3 is deleted due to mutation of the splice acceptor site of intron 3. In the Sp4H allele, the Pax-3 gene is deleted and in Spd embryos, Pax-3 expression is significantly lower than that in normal littermate embryos. The linkage analysis, shortened Pax-3 transcript in Sp, and deletion of Pax-3 in Sp4H described here, together with the previous report of an intragenic deletion in Pax-3 in Sp2H mice and the deletion of Pax-3 in Spr mice, provide strong evidence for the allelic identity of Pax-3 and Sp3. |
| doi_str_mv | 10.1006/geno.1993.1332 |
| format | Article |
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Molecular analysis of Pax-3 in three alleles of splotch shows a number of significant alterations to the Pax-3 gene. In Sp/Sp embryos, cDNA PCR analysis reveals a shortened transcript in which exon 4 of Pax-3 is deleted due to mutation of the splice acceptor site of intron 3. In the Sp4H allele, the Pax-3 gene is deleted and in Spd embryos, Pax-3 expression is significantly lower than that in normal littermate embryos. The linkage analysis, shortened Pax-3 transcript in Sp, and deletion of Pax-3 in Sp4H described here, together with the previous report of an intragenic deletion in Pax-3 in Sp2H mice and the deletion of Pax-3 in Spr mice, provide strong evidence for the allelic identity of Pax-3 and Sp3.</description><identifier>ISSN: 0888-7543</identifier><identifier>EISSN: 1089-8646</identifier><identifier>DOI: 10.1006/geno.1993.1332</identifier><identifier>PMID: 8406486</identifier><language>eng</language><publisher>San Diego, CA: Elsevier Inc</publisher><subject>Alleles ; Alternative Splicing ; Animals ; Base Sequence ; Biological and medical sciences ; Chromosome Mapping ; Classical genetics, quantitative genetics, hybrids ; Crosses, Genetic ; Female ; Fundamental and applied biological sciences. Psychology ; Gene Deletion ; Genetic Linkage ; Genetics of eukaryotes. Biological and molecular evolution ; Heterozygote ; Homozygote ; Male ; Mice ; Mice, Inbred C3H - genetics ; Mice, Neurologic Mutants - genetics ; Molecular Sequence Data ; Mutation ; Oligodeoxyribonucleotides ; Phenotype ; Polymerase Chain Reaction ; Transcription, Genetic ; Vertebrata</subject><ispartof>Genomics (San Diego, Calif.), 1993-08, Vol.17 (2), p.355-363</ispartof><rights>1993 Academic Press</rights><rights>1993 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c368t-e53e9e3628e23c69678226adc69c6b9313ac00f3dc7a57e80fb8e497b44e1d123</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0888754383713327$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4853139$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8406486$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Goulding, M.</creatorcontrib><creatorcontrib>Sterrer, S.</creatorcontrib><creatorcontrib>Fleming, J.</creatorcontrib><creatorcontrib>Balling, R.</creatorcontrib><creatorcontrib>Nadeau, J.</creatorcontrib><creatorcontrib>Moore, K.J.</creatorcontrib><creatorcontrib>Brown, S.D.M.</creatorcontrib><creatorcontrib>Steel, K.P.</creatorcontrib><creatorcontrib>Gruss, P.</creatorcontrib><title>Analysis of the Pax-3 Gene in the Mouse Mutant Splotch</title><title>Genomics (San Diego, Calif.)</title><addtitle>Genomics</addtitle><description>In a linkage analysis of Pax-3 and splotch no recombinations were found in 117 backcross mice. Molecular analysis of Pax-3 in three alleles of splotch shows a number of significant alterations to the Pax-3 gene. In Sp/Sp embryos, cDNA PCR analysis reveals a shortened transcript in which exon 4 of Pax-3 is deleted due to mutation of the splice acceptor site of intron 3. In the Sp4H allele, the Pax-3 gene is deleted and in Spd embryos, Pax-3 expression is significantly lower than that in normal littermate embryos. The linkage analysis, shortened Pax-3 transcript in Sp, and deletion of Pax-3 in Sp4H described here, together with the previous report of an intragenic deletion in Pax-3 in Sp2H mice and the deletion of Pax-3 in Spr mice, provide strong evidence for the allelic identity of Pax-3 and Sp3.</description><subject>Alleles</subject><subject>Alternative Splicing</subject><subject>Animals</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Chromosome Mapping</subject><subject>Classical genetics, quantitative genetics, hybrids</subject><subject>Crosses, Genetic</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Deletion</subject><subject>Genetic Linkage</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Heterozygote</subject><subject>Homozygote</subject><subject>Male</subject><subject>Mice</subject><subject>Mice, Inbred C3H - genetics</subject><subject>Mice, Neurologic Mutants - genetics</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Oligodeoxyribonucleotides</subject><subject>Phenotype</subject><subject>Polymerase Chain Reaction</subject><subject>Transcription, Genetic</subject><subject>Vertebrata</subject><issn>0888-7543</issn><issn>1089-8646</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kM9LwzAUx4Moc06v3oQexFtrfjVNjmPoFCYK6jmk6auLdO1sWnH_vakru3nJC-993uPLB6FLghOCsbj9gLpJiFIsIYzRIzQlWKpYCi6O0RRLKeMs5ewUnXn_iTFWTNIJmkiOBZdiisS8NtXOOx81ZdStIXoxPzGLllBD5Oq_zlPT-_D2nam76HVbNZ1dn6OT0lQeLsY6Q-_3d2-Lh3j1vHxczFexZUJ2MaQMFDBBJVBmhRKZpFSYInytyBUjzFiMS1bYzKQZSFzmErjKcs6BFISyGbrZ3922zVcPvtMb5y1UlakhxNJZqqSiKg1gsgdt23jfQqm3rduYdqcJ1oMoPYjSgyg9iAoLV-PlPt9AccBHM2F-Pc6Nt6YqW1Nb5w8Yl2lIrwIm9xgEC98OWu2tg9pC4VqwnS4a91-CX2_Jgc0</recordid><startdate>19930801</startdate><enddate>19930801</enddate><creator>Goulding, M.</creator><creator>Sterrer, S.</creator><creator>Fleming, J.</creator><creator>Balling, R.</creator><creator>Nadeau, J.</creator><creator>Moore, K.J.</creator><creator>Brown, S.D.M.</creator><creator>Steel, K.P.</creator><creator>Gruss, P.</creator><general>Elsevier Inc</general><general>Elsevier</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>7X8</scope></search><sort><creationdate>19930801</creationdate><title>Analysis of the Pax-3 Gene in the Mouse Mutant Splotch</title><author>Goulding, M. ; Sterrer, S. ; Fleming, J. ; Balling, R. ; Nadeau, J. ; Moore, K.J. ; Brown, S.D.M. ; Steel, K.P. ; Gruss, P.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c368t-e53e9e3628e23c69678226adc69c6b9313ac00f3dc7a57e80fb8e497b44e1d123</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1993</creationdate><topic>Alleles</topic><topic>Alternative Splicing</topic><topic>Animals</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Chromosome Mapping</topic><topic>Classical genetics, quantitative genetics, hybrids</topic><topic>Crosses, Genetic</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene Deletion</topic><topic>Genetic Linkage</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Heterozygote</topic><topic>Homozygote</topic><topic>Male</topic><topic>Mice</topic><topic>Mice, Inbred C3H - genetics</topic><topic>Mice, Neurologic Mutants - genetics</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>Oligodeoxyribonucleotides</topic><topic>Phenotype</topic><topic>Polymerase Chain Reaction</topic><topic>Transcription, Genetic</topic><topic>Vertebrata</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Goulding, M.</creatorcontrib><creatorcontrib>Sterrer, S.</creatorcontrib><creatorcontrib>Fleming, J.</creatorcontrib><creatorcontrib>Balling, R.</creatorcontrib><creatorcontrib>Nadeau, J.</creatorcontrib><creatorcontrib>Moore, K.J.</creatorcontrib><creatorcontrib>Brown, S.D.M.</creatorcontrib><creatorcontrib>Steel, K.P.</creatorcontrib><creatorcontrib>Gruss, P.</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>MEDLINE - Academic</collection><jtitle>Genomics (San Diego, Calif.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Goulding, M.</au><au>Sterrer, S.</au><au>Fleming, J.</au><au>Balling, R.</au><au>Nadeau, J.</au><au>Moore, K.J.</au><au>Brown, S.D.M.</au><au>Steel, K.P.</au><au>Gruss, P.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Analysis of the Pax-3 Gene in the Mouse Mutant Splotch</atitle><jtitle>Genomics (San Diego, Calif.)</jtitle><addtitle>Genomics</addtitle><date>1993-08-01</date><risdate>1993</risdate><volume>17</volume><issue>2</issue><spage>355</spage><epage>363</epage><pages>355-363</pages><issn>0888-7543</issn><eissn>1089-8646</eissn><abstract>In a linkage analysis of Pax-3 and splotch no recombinations were found in 117 backcross mice. Molecular analysis of Pax-3 in three alleles of splotch shows a number of significant alterations to the Pax-3 gene. In Sp/Sp embryos, cDNA PCR analysis reveals a shortened transcript in which exon 4 of Pax-3 is deleted due to mutation of the splice acceptor site of intron 3. In the Sp4H allele, the Pax-3 gene is deleted and in Spd embryos, Pax-3 expression is significantly lower than that in normal littermate embryos. The linkage analysis, shortened Pax-3 transcript in Sp, and deletion of Pax-3 in Sp4H described here, together with the previous report of an intragenic deletion in Pax-3 in Sp2H mice and the deletion of Pax-3 in Spr mice, provide strong evidence for the allelic identity of Pax-3 and Sp3.</abstract><cop>San Diego, CA</cop><pub>Elsevier Inc</pub><pmid>8406486</pmid><doi>10.1006/geno.1993.1332</doi><tpages>9</tpages></addata></record> |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Alleles Alternative Splicing Animals Base Sequence Biological and medical sciences Chromosome Mapping Classical genetics, quantitative genetics, hybrids Crosses, Genetic Female Fundamental and applied biological sciences. Psychology Gene Deletion Genetic Linkage Genetics of eukaryotes. Biological and molecular evolution Heterozygote Homozygote Male Mice Mice, Inbred C3H - genetics Mice, Neurologic Mutants - genetics Molecular Sequence Data Mutation Oligodeoxyribonucleotides Phenotype Polymerase Chain Reaction Transcription, Genetic Vertebrata |
| title | Analysis of the Pax-3 Gene in the Mouse Mutant Splotch |
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