PMC:5118444 / 37412-39524 JSONTXT

{"target":"http://pubannotation.org/docs/sourcedb/PMC/sourceid/5118444","sourcedb":"PMC","sourceid":"5118444","source_url":"https://www.ncbi.nlm.nih.gov/pmc/5118444","text":"Conclusion\nIn recent years, copy number variation has gained considerable interest as a source of genetic variation that likely plays a role in phenotypic diversity. Much of the effort in studying copy number variation has been allocated to identification and validation of CNVs in several different organisms. Genome wide association studies have even linked changes in copy number to complex diseases. However, the evolutionary and functional impact of copy number variation is not well understood.\nCattle CNV research has made significant progress in the last 5 years. Genome-wide CNV maps have been generated using a variety of platforms and detection algorithms. However, the overlap between results from these studies is quite low. As mentioned earlier, these discrepancies may be due to differences in breeds, sample size, platform, and detection algorithm. In attempt to capture a larger portion of coding sequence copy number variation in the bovine genome, we chose to use a larger sample size (175 samples) than previous NGS CNV studies, as well as samples from multiple breeds (10 breeds). Additional copy number variation may be detected by including broader sampling from each from each breed and will likely be more effective in capturing breed-specific differences in CNV.\nThe evolutionary and functional patterns identified in this work for Bos taurus and in other studies for other species support a partial adaptive explanation for copy number diversity. We have shown that the dominant evolutionary forces that shape CNV are likely reduced functional (selective) constraint and mutational bias. Genomics research has traditionally concentrated on single-nucleotide polymorphisms as the most relevant source of structural variation in the genome. However, it is becoming progressively clear that CNVs may have considerable functional and evolutionary consequences. Understanding the role that CNVs play in reshaping gene structure, modulating gene expression, and ultimately contributing to phenotypic variation represent major future goals for the population genetics of structural variation.","divisions":[{"label":"title","span":{"begin":0,"end":10}},{"label":"p","span":{"begin":11,"end":500}},{"label":"p","span":{"begin":501,"end":1288}}],"tracks":[]}