Lorielle M Raab, Steve Kucera, Brian Oliver, Leif Benner
{"title":"v24等位基因是预测的朱砂色氨酸2,3-双加氧酶蛋白结构域内的错义突变。","authors":"Lorielle M Raab, Steve Kucera, Brian Oliver, Leif Benner","doi":"10.17912/micropub.biology.001760","DOIUrl":null,"url":null,"abstract":"<p><p>Many loss-of-function mutations in the <i>Drosophila</i> <i>vermilion</i> ( <i>v</i> ) gene have been described. However, the causal mutation in the common <i>v <sup>24</sup></i> allele is unknown. We sequenced different <i>v</i> alleles ( <i>v <sup>24</sup></i> , <i>v <sup>+</sup></i> , and <i>v <sup>1</sup></i> ) to identify candidate <i>v <sup>24</sup> </i> mutations. We identified a single T>A missense mutation shared among the three <i>v <sup>24</sup></i> chromosomes, resulting in a Phe>Ile amino acid change within the predicted tryptophan 2,3-dioxygenase protein domain. This same T>A missense mutation has been independently shown to result in a <i>v <sup>-</sup></i> phenotype by Nivard et al., 1993 and is therefore strong corroborating evidence that this mutation is causal for the <i>v <sup>-</sup></i> phenotype in the <i>v <sup>24</sup></i> allele.</p>","PeriodicalId":74192,"journal":{"name":"microPublication biology","volume":"2025 ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12402933/pdf/","citationCount":"0","resultStr":"{\"title\":\"The <i>v <sup>24</sup></i> Allele is a Missense Mutation Within the Predicted Tryptophan 2,3-dioxygenase Protein Domain of <i>vermilion</i>.\",\"authors\":\"Lorielle M Raab, Steve Kucera, Brian Oliver, Leif Benner\",\"doi\":\"10.17912/micropub.biology.001760\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Many loss-of-function mutations in the <i>Drosophila</i> <i>vermilion</i> ( <i>v</i> ) gene have been described. However, the causal mutation in the common <i>v <sup>24</sup></i> allele is unknown. We sequenced different <i>v</i> alleles ( <i>v <sup>24</sup></i> , <i>v <sup>+</sup></i> , and <i>v <sup>1</sup></i> ) to identify candidate <i>v <sup>24</sup> </i> mutations. We identified a single T>A missense mutation shared among the three <i>v <sup>24</sup></i> chromosomes, resulting in a Phe>Ile amino acid change within the predicted tryptophan 2,3-dioxygenase protein domain. This same T>A missense mutation has been independently shown to result in a <i>v <sup>-</sup></i> phenotype by Nivard et al., 1993 and is therefore strong corroborating evidence that this mutation is causal for the <i>v <sup>-</sup></i> phenotype in the <i>v <sup>24</sup></i> allele.</p>\",\"PeriodicalId\":74192,\"journal\":{\"name\":\"microPublication biology\",\"volume\":\"2025 \",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-08-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12402933/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"microPublication biology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.17912/micropub.biology.001760\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"microPublication biology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.17912/micropub.biology.001760","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
The v 24 Allele is a Missense Mutation Within the Predicted Tryptophan 2,3-dioxygenase Protein Domain of vermilion.
Many loss-of-function mutations in the Drosophilavermilion ( v ) gene have been described. However, the causal mutation in the common v 24 allele is unknown. We sequenced different v alleles ( v 24 , v + , and v 1 ) to identify candidate v 24 mutations. We identified a single T>A missense mutation shared among the three v 24 chromosomes, resulting in a Phe>Ile amino acid change within the predicted tryptophan 2,3-dioxygenase protein domain. This same T>A missense mutation has been independently shown to result in a v - phenotype by Nivard et al., 1993 and is therefore strong corroborating evidence that this mutation is causal for the v - phenotype in the v 24 allele.