{"title":"卡兰·弗莱斯牛哺乳动物基因组学中与繁殖和生产性状相关的拷贝数可变区图谱。","authors":"Oshin Togla, Shivam Bhardwaj, Sagar Kadyan, Yaser Mushtaq Wani, Sabyasachi Mukherjee, Anupama Mukherjee","doi":"10.1007/s00335-025-10152-w","DOIUrl":null,"url":null,"abstract":"<p><p>Copy Number Variants (CNVs) are the structural variations influencing more nucleotides when compared to other types of variations, having a greater impact on the regulation of gene expression, dosage of a gene, altering the coding sequences, all of which might lead to phenotypic variations. Research in the areas of the characterizing CNVs, their discovery and genesis, and their functional effects is in infancy particularly in Indian cattle breeds. We hypothesized that due to the intensive selection for production traits carried out for a premium milch crossbred cattle Karan-fries, they might be characterized by unique CNVs. In order to discover and characterize the genome-wide CNVs and CNV Regions (CNVRs) using HD SNP genotypic array, the current study was carried out on 44 Karan-Fries Cattle. To take use of the complementing advantages of the various methodologies, three distinct approaches (PennCNV, QuantiSNP, and CNVPartition) to identify CNVs were chosen. The techniques mentioned above revealed 2989, 4088, 2316 CNVs, and 980, 1526 917 CNVRegions respectively. The study failed to find a consistent pattern for the number and size of CNV (either overestimation or underestimate by different algorithms). PennCNV algorithm results could be considered to be more accurate than others as there was higher overlapping of PennCNV results by other algorithms. BTA5, BTA12, and BTA17 were significantly enriched for CNVs. QTLs for milk beta-lactoglobulin percentage and interval from estrus to calving were considerably enriched. Using combination of various approaches, the entire CNVR map for Karan-Fries Cattle was developed. This map could be used as a guide for other native breeds and crossbreds.</p>","PeriodicalId":18259,"journal":{"name":"Mammalian Genome","volume":" ","pages":""},"PeriodicalIF":2.7000,"publicationDate":"2025-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Mapping copy number variable regions correlated with reproduction and production traits in Karan Fries cattle mammalian genomics.\",\"authors\":\"Oshin Togla, Shivam Bhardwaj, Sagar Kadyan, Yaser Mushtaq Wani, Sabyasachi Mukherjee, Anupama Mukherjee\",\"doi\":\"10.1007/s00335-025-10152-w\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Copy Number Variants (CNVs) are the structural variations influencing more nucleotides when compared to other types of variations, having a greater impact on the regulation of gene expression, dosage of a gene, altering the coding sequences, all of which might lead to phenotypic variations. Research in the areas of the characterizing CNVs, their discovery and genesis, and their functional effects is in infancy particularly in Indian cattle breeds. We hypothesized that due to the intensive selection for production traits carried out for a premium milch crossbred cattle Karan-fries, they might be characterized by unique CNVs. In order to discover and characterize the genome-wide CNVs and CNV Regions (CNVRs) using HD SNP genotypic array, the current study was carried out on 44 Karan-Fries Cattle. To take use of the complementing advantages of the various methodologies, three distinct approaches (PennCNV, QuantiSNP, and CNVPartition) to identify CNVs were chosen. The techniques mentioned above revealed 2989, 4088, 2316 CNVs, and 980, 1526 917 CNVRegions respectively. The study failed to find a consistent pattern for the number and size of CNV (either overestimation or underestimate by different algorithms). PennCNV algorithm results could be considered to be more accurate than others as there was higher overlapping of PennCNV results by other algorithms. BTA5, BTA12, and BTA17 were significantly enriched for CNVs. QTLs for milk beta-lactoglobulin percentage and interval from estrus to calving were considerably enriched. Using combination of various approaches, the entire CNVR map for Karan-Fries Cattle was developed. This map could be used as a guide for other native breeds and crossbreds.</p>\",\"PeriodicalId\":18259,\"journal\":{\"name\":\"Mammalian Genome\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.7000,\"publicationDate\":\"2025-08-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Mammalian Genome\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1007/s00335-025-10152-w\",\"RegionNum\":4,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"BIOCHEMISTRY & MOLECULAR BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Mammalian Genome","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1007/s00335-025-10152-w","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
引用次数: 0
摘要
拷贝数变异(Copy Number Variants, CNVs)是一种结构变异,与其他类型的变异相比,影响更多的核苷酸,对基因表达的调控、基因的剂量、编码序列的改变有更大的影响,所有这些都可能导致表型变异。在CNVs的特征、它们的发现和发生以及它们的功能影响方面的研究还处于起步阶段,特别是在印度牛品种中。我们推测,由于对优质牛奶杂交牛Karan-fries进行了密集的生产性状选择,它们可能具有独特的CNVs特征。为了利用HD SNP基因型阵列发现和表征全基因组CNVs和cnvr区域(cnvr),本研究以44头Karan-Fries牛为研究对象。为了利用各种方法的互补优势,选择了三种不同的方法(PennCNV、QuantiSNP和CNVPartition)来识别cnv。上述技术分别发现了2989、4088、2316个cnv和980、1526 917个CNVRegions。该研究未能找到CNV数量和大小的一致模式(不同算法要么高估要么低估)。PennCNV算法的结果可以认为比其他算法的结果更准确,因为其他算法的PennCNV结果有更高的重叠。BTA5、BTA12和BTA17在CNVs中显著富集。乳β -乳球蛋白百分比和发情至产犊间隔的qtl显著增加。利用各种方法的组合,开发了Karan-Fries牛的整个CNVR地图。这张地图可以作为其他本地品种和杂交品种的指南。
Mapping copy number variable regions correlated with reproduction and production traits in Karan Fries cattle mammalian genomics.
Copy Number Variants (CNVs) are the structural variations influencing more nucleotides when compared to other types of variations, having a greater impact on the regulation of gene expression, dosage of a gene, altering the coding sequences, all of which might lead to phenotypic variations. Research in the areas of the characterizing CNVs, their discovery and genesis, and their functional effects is in infancy particularly in Indian cattle breeds. We hypothesized that due to the intensive selection for production traits carried out for a premium milch crossbred cattle Karan-fries, they might be characterized by unique CNVs. In order to discover and characterize the genome-wide CNVs and CNV Regions (CNVRs) using HD SNP genotypic array, the current study was carried out on 44 Karan-Fries Cattle. To take use of the complementing advantages of the various methodologies, three distinct approaches (PennCNV, QuantiSNP, and CNVPartition) to identify CNVs were chosen. The techniques mentioned above revealed 2989, 4088, 2316 CNVs, and 980, 1526 917 CNVRegions respectively. The study failed to find a consistent pattern for the number and size of CNV (either overestimation or underestimate by different algorithms). PennCNV algorithm results could be considered to be more accurate than others as there was higher overlapping of PennCNV results by other algorithms. BTA5, BTA12, and BTA17 were significantly enriched for CNVs. QTLs for milk beta-lactoglobulin percentage and interval from estrus to calving were considerably enriched. Using combination of various approaches, the entire CNVR map for Karan-Fries Cattle was developed. This map could be used as a guide for other native breeds and crossbreds.
期刊介绍:
Mammalian Genome focuses on the experimental, theoretical and technical aspects of genetics, genomics, epigenetics and systems biology in mouse, human and other mammalian species, with an emphasis on the relationship between genotype and phenotype, elucidation of biological and disease pathways as well as experimental aspects of interventions, therapeutics, and precision medicine. The journal aims to publish high quality original papers that present novel findings in all areas of mammalian genetic research as well as review articles on areas of topical interest. The journal will also feature commentaries and editorials to inform readers of breakthrough discoveries as well as issues of research standards, policies and ethics.