Bovine αs2 -casein D is generated by exon VIII skipping

Bovine α s2 -casein D (CasD) differs from the common type A by the deletion of a stretch of 9 amino acids (aa) starting at a position not precisely known, either at aa 50, 51, or 52. The sequence of cloned PCR-amplified genomic DNA from three homozygous cows, two unrelated females carrying the CasD...

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Veröffentlicht in:Gene 1993-06, Vol.128 (2), p.289-293
Hauptverfasser: Bouniol, Christine, Printz, Christiane, Mercier, Jean-Claude
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Printz, Christiane
Mercier, Jean-Claude
description Bovine α s2 -casein D (CasD) differs from the common type A by the deletion of a stretch of 9 amino acids (aa) starting at a position not precisely known, either at aa 50, 51, or 52. The sequence of cloned PCR-amplified genomic DNA from three homozygous cows, two unrelated females carrying the CasD allele and one carrying the CasA allele, did not reveal any deletion and showed two identical nucleotide (nt) substitutions in the 1.7-kb region of both CasD alleles encompassing codons 43–75 in the cDNA encoding α s2 -CasA. This strongly suggests that the deleted bovine α s2 -CasD arises from skipping the 27-nt exon, now identified as exon VIII, which encodes aa 51–59 of α s2 -CasA. The G→T transversion (allele A→D) affecting the last nt of exon VIII, i.e., the 5' consensus splicing site, might be responsible for the altered splicing of the primary transcript of α s2 - CasD.
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The sequence of cloned PCR-amplified genomic DNA from three homozygous cows, two unrelated females carrying the CasD allele and one carrying the CasA allele, did not reveal any deletion and showed two identical nucleotide (nt) substitutions in the 1.7-kb region of both CasD alleles encompassing codons 43–75 in the cDNA encoding α s2 -CasA. This strongly suggests that the deleted bovine α s2 -CasD arises from skipping the 27-nt exon, now identified as exon VIII, which encodes aa 51–59 of α s2 -CasA. The G→T transversion (allele A→D) affecting the last nt of exon VIII, i.e., the 5' consensus splicing site, might be responsible for the altered splicing of the primary transcript of α s2 - CasD.</description><subject>Alleles</subject><subject>alphaS1-casein</subject><subject>alternative splicing</subject><subject>amino acid sequences</subject><subject>Animals</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>casa allele</subject><subject>casd allele</subject><subject>Caseins - genetics</subject><subject>Cattle</subject><subject>complementary DNA</subject><subject>Consensus Sequence</subject><subject>deletion</subject><subject>DNA Mutational Analysis</subject><subject>Exons</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>genbank/x68971</subject><subject>genbank/x68972</subject><subject>Genes. Genome</subject><subject>Genetics</subject><subject>Life Sciences</subject><subject>milk protein</subject><subject>Molecular and cellular biology</subject><subject>Molecular genetics</subject><subject>Molecular Sequence Data</subject><subject>nucleotide sequences</subject><subject>Point Mutation</subject><subject>Polymerase Chain Reaction</subject><subject>RNA Precursors - genetics</subject><subject>RNA Splicing</subject><subject>RNA, Messenger - genetics</subject><subject>Sequence Deletion</subject><issn>0378-1119</issn><issn>1879-0038</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kM9uEzEQhy0EKiHwBiB8QIgeFsb2em1fkEr500iRqATlanm942DY7KZ2EtHH4kV4Jhw2ypE5eKSZb36yPkKeMnjNgDVvQChdMcbMKyPODUilqut7ZMa0MhWA0PfJ7IQ8JI9y_gGlpORn5ExLVjPTzIh-N-7jgPTP78xp5V3GOND3NGa6wgGT22JH2zuKv8aBflssFjT_jJtNHFaPyYPg-oxPjn1Obj5--Hp5VS0_f1pcXiwrL6TZVsEZ8No5AIcMNIDp2tYFKTQ2miN4IUwXOhZEEJ6jEBJl04hWi1qYUMZzcj7lfne93aS4dunOji7aq4ulPcyAK1Y3yuxZYV9O7CaNtzvMW7uO2WPfuwHHXbZKKm0kbwpYT6BPY84JwymZgT3ItQdz9mDOGmH_ybXX5ezZMX_XrrE7HR1tlv2L495l7_qQ3OBjPmG1Frwuz5w8n7DgRutWqSA3XzgwAUzpGjgvxNuJwGJ2HzHZ7CMOHruY0G9tN8b___QvSzOcQw</recordid><startdate>19930630</startdate><enddate>19930630</enddate><creator>Bouniol, Christine</creator><creator>Printz, Christiane</creator><creator>Mercier, Jean-Claude</creator><general>Elsevier B.V</general><general>Elsevier</general><scope>FBQ</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>1XC</scope><orcidid>https://orcid.org/0000-0002-8966-9522</orcidid></search><sort><creationdate>19930630</creationdate><title>Bovine αs2 -casein D is generated by exon VIII skipping</title><author>Bouniol, Christine ; Printz, Christiane ; Mercier, Jean-Claude</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c359t-fa90c8aa00ae108009dbbaf538e682e0c339dfd1f3f3c2e335e5663b83439f1f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1993</creationdate><topic>Alleles</topic><topic>alphaS1-casein</topic><topic>alternative splicing</topic><topic>amino acid sequences</topic><topic>Animals</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>casa allele</topic><topic>casd allele</topic><topic>Caseins - genetics</topic><topic>Cattle</topic><topic>complementary DNA</topic><topic>Consensus Sequence</topic><topic>deletion</topic><topic>DNA Mutational Analysis</topic><topic>Exons</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>genbank/x68971</topic><topic>genbank/x68972</topic><topic>Genes. Genome</topic><topic>Genetics</topic><topic>Life Sciences</topic><topic>milk protein</topic><topic>Molecular and cellular biology</topic><topic>Molecular genetics</topic><topic>Molecular Sequence Data</topic><topic>nucleotide sequences</topic><topic>Point Mutation</topic><topic>Polymerase Chain Reaction</topic><topic>RNA Precursors - genetics</topic><topic>RNA Splicing</topic><topic>RNA, Messenger - genetics</topic><topic>Sequence Deletion</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bouniol, Christine</creatorcontrib><creatorcontrib>Printz, Christiane</creatorcontrib><creatorcontrib>Mercier, Jean-Claude</creatorcontrib><collection>AGRIS</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>Hyper Article en Ligne (HAL)</collection><jtitle>Gene</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bouniol, Christine</au><au>Printz, Christiane</au><au>Mercier, Jean-Claude</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Bovine αs2 -casein D is generated by exon VIII skipping</atitle><jtitle>Gene</jtitle><addtitle>Gene</addtitle><date>1993-06-30</date><risdate>1993</risdate><volume>128</volume><issue>2</issue><spage>289</spage><epage>293</epage><pages>289-293</pages><issn>0378-1119</issn><eissn>1879-0038</eissn><coden>GENED6</coden><abstract>Bovine α s2 -casein D (CasD) differs from the common type A by the deletion of a stretch of 9 amino acids (aa) starting at a position not precisely known, either at aa 50, 51, or 52. The sequence of cloned PCR-amplified genomic DNA from three homozygous cows, two unrelated females carrying the CasD allele and one carrying the CasA allele, did not reveal any deletion and showed two identical nucleotide (nt) substitutions in the 1.7-kb region of both CasD alleles encompassing codons 43–75 in the cDNA encoding α s2 -CasA. This strongly suggests that the deleted bovine α s2 -CasD arises from skipping the 27-nt exon, now identified as exon VIII, which encodes aa 51–59 of α s2 -CasA. The G→T transversion (allele A→D) affecting the last nt of exon VIII, i.e., the 5' consensus splicing site, might be responsible for the altered splicing of the primary transcript of α s2 - CasD.</abstract><cop>Lausanne</cop><cop>Amsterdam</cop><cop>New York, NY</cop><pub>Elsevier B.V</pub><pmid>8514196</pmid><doi>10.1016/0378-1119(93)90577-P</doi><tpages>5</tpages><orcidid>https://orcid.org/0000-0002-8966-9522</orcidid></addata></record>
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subjects Alleles
alphaS1-casein
alternative splicing
amino acid sequences
Animals
Base Sequence
Biological and medical sciences
casa allele
casd allele
Caseins - genetics
Cattle
complementary DNA
Consensus Sequence
deletion
DNA Mutational Analysis
Exons
Female
Fundamental and applied biological sciences. Psychology
genbank/x68971
genbank/x68972
Genes. Genome
Genetics
Life Sciences
milk protein
Molecular and cellular biology
Molecular genetics
Molecular Sequence Data
nucleotide sequences
Point Mutation
Polymerase Chain Reaction
RNA Precursors - genetics
RNA Splicing
RNA, Messenger - genetics
Sequence Deletion
title Bovine αs2 -casein D is generated by exon VIII skipping
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