An association between copy number variation of enhancer involved in craniofacial development and biogeographic ancestry
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RIS BIB ENDNOTEAn association between copy number variation of enhancer involved in craniofacial development and biogeographic ancestry
Publication date: 11.2022
Archives of Forensic Medicine and Criminology, 2022, Vol. 72 (2), pp. 61 - 66
https://doi.org/10.4467/16891716AMSIK.22.008.16806Authors
An association between copy number variation of enhancer involved in craniofacial development and biogeographic ancestry
Human facial morphology is a combination of many complex traits and is determined by a large number of genes and enhancers. Here, we report a Copy Number Variation (CNV) study of enhancer hs1431 in populations of Central European and South Siberian ancestry. Central European samples included 97 Poles, while South Siberian samples included 78 Buryats and 27 Tuvinians. CNVs were detected by real-time PCR, using ViiA™ 7 Real-Time PCR System (Applied Biosystems). We revealed significant differences in CNV of hs1431 enhancer between Polish and Buryat population (p=0.0378), but not between Central European and South Siberian population (p=0.1225). Our results suggest that an increase in copy number variation of hs1431 enhancer is associated with biogeographic ancestry. However, this result needs extending and replicating in larger cohorts. This is the first study revealing the presence of copy number variation of enhancer hs1431 in humans.
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Information: Archives of Forensic Medicine and Criminology, 2022, Vol. 72 (2), pp. 61 - 66
Article type: Original article
Titles:
An association between copy number variation of enhancer involved in craniofacial development and biogeographic ancestry
Związek pomiędzy zmiennością liczby kopii wzmacniacza zaangażowanego w rozwój twarzoczaszki a pochodzeniem biogeograficznym
Department of Forensic Medicine, The Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Toruń, Bydgoszcz, Poland
Poland
Institute of Biological Problems of the North, Far-East Branch of the Russian Academy of Sciences, Magadan, Russia
Institute of Biological Problems of the North, Far-East Branch of the Russian Academy of Sciences, Magadan, Russia
Department of Forensic Medicine, Division of Molecular & Forensic Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Toruń
Poland
Published at: 11.2022
Received at: 29.08.2022
Accepted at: 10.09.2022
Article status: Open
Licence: CC-BY-NC-SA
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EnglishView count: 400
Number of downloads: 326
Suggested citations: Nature