Związek pomiędzy zmiennością liczby kopii wzmacniacza zaangażowanego w rozwój twarzoczaszki a pochodzeniem biogeograficznym
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RIS BIB ENDNOTEAn association between copy number variation of enhancer involved in craniofacial development and biogeographic ancestry
Data publikacji: 11.2022
Archiwum Medycyny Sądowej i Kryminologii, 2022, Vol. 72 (2), s. 61 - 66
https://doi.org/10.4467/16891716AMSIK.22.008.16806Autorzy
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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Informacje: Archiwum Medycyny Sądowej i Kryminologii, 2022, Vol. 72 (2), s. 61 - 66
Typ artykułu: Oryginalny artykuł naukowy
Tytuły:
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
Katedra Medycyny Sądowej, Collegium Medicum im. Ludwika Rydygiera w Bydgoszczy, Uniwersytet Mikołaja Kopernika w Toruniu,
Polska
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
Katedra Medycyny Sądowej, Zakład Genetyki Molekularnej i Sądowej, Wydział Lekarski, Collegium Medicum Uniwersytetu Mikołaja Kopernika
Polska
Publikacja: 11.2022
Otrzymano: 29.08.2022
Zaakceptowano: 10.09.2022
Status artykułu: Otwarte
Licencja: CC-BY-NC-SA
Udział procentowy autorów:
Korekty artykułu:
-Języki publikacji:
AngielskiLiczba wyświetleń: 399
Liczba pobrań: 326
Sugerowane cytowania: Nature