{"title":"要么加倍，要么一无所有：古代淀粉酶位点的复制驱动着人类的适应。","authors":"Shahar Silverman, Diyendo Massilani","doi":"10.1016/j.xgen.2024.100741","DOIUrl":null,"url":null,"abstract":"<p><p>Salivary and pancreatic amylase are encoded by AMY1 and AMY2, respectively, which are located within a single genomic locus that has undergone substantial structural variation, resulting in varying gene copy numbers across species. Using optical genome mapping and long-read sequencing, Yilmaz, Karageorgiou, Kim, et al. achieved nucleotide-level resolution of this locus across different human populations, offering new insights into how copy number variation contributes to human adaptation.</p>","PeriodicalId":72539,"journal":{"name":"Cell genomics","volume":"5 1","pages":"100741"},"PeriodicalIF":11.1000,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11770207/pdf/","citationCount":"0","resultStr":"{\"title\":\"Double or nothing: Ancient duplications in the amylase locus drove human adaptation.\",\"authors\":\"Shahar Silverman, Diyendo Massilani\",\"doi\":\"10.1016/j.xgen.2024.100741\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Salivary and pancreatic amylase are encoded by AMY1 and AMY2, respectively, which are located within a single genomic locus that has undergone substantial structural variation, resulting in varying gene copy numbers across species. Using optical genome mapping and long-read sequencing, Yilmaz, Karageorgiou, Kim, et al. achieved nucleotide-level resolution of this locus across different human populations, offering new insights into how copy number variation contributes to human adaptation.</p>\",\"PeriodicalId\":72539,\"journal\":{\"name\":\"Cell genomics\",\"volume\":\"5 1\",\"pages\":\"100741\"},\"PeriodicalIF\":11.1000,\"publicationDate\":\"2025-01-08\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11770207/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Cell genomics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1016/j.xgen.2024.100741\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CELL BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cell genomics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1016/j.xgen.2024.100741","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CELL BIOLOGY","Score":null,"Total":0}
Double or nothing: Ancient duplications in the amylase locus drove human adaptation.
Salivary and pancreatic amylase are encoded by AMY1 and AMY2, respectively, which are located within a single genomic locus that has undergone substantial structural variation, resulting in varying gene copy numbers across species. Using optical genome mapping and long-read sequencing, Yilmaz, Karageorgiou, Kim, et al. achieved nucleotide-level resolution of this locus across different human populations, offering new insights into how copy number variation contributes to human adaptation.
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