An association between copy number variation of enhancer involved in craniofacial development and biogeographic ancestry-Reference-Cited by-同舟云学术

An association between copy number variation of enhancer involved in craniofacial development and biogeographic ancestry

Published:2022-11-30 Issue:2 Volume:72 Page:61-66
ISSN:1689-1716
Container-title:Archives of Forensic Medicine and Criminology
language:
Short-container-title:AMSIK

Author:

Linkowska Katarzyna¹^ORCID,Malyarchuk Boris A.²^ORCID,Derenko Miroslava V.³^ORCID,Grzybowski Tomasz¹^ORCID

Affiliation:

1. Department of Forensic Medicine, Division of Molecular & Forensic Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Toruń, Poland

2. Institute of Biological Problems of the North, Far-East Branch of the Russian Academy of Sciences, Magadan, Russia

3. North, Far-East Branch of the Russian Academy of Sciences, Magadan, Russia

Abstract

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.

Publisher

Uniwersytet Jagiellonski - Wydawnictwo Uniwersytetu Jagiellonskiego

Subject

General Medicine

Reference22 articles.

1. 1. Dixon, M.J.; Marazita, M.L.; Beaty, T.H.; Murray, J.C. Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet 2011, 12, 167-178, doi:10.1038/nrg2933.

2. 2. Hammond, P.; McKee, S.; Suttie, M.; Allanson, J.; Cobben, J.M.; Maas, S.M.; Quarrell, O.; Smith, A.C.; Lewis, S.; Tassabehji, M.; et al. Opposite effects on facial morphology due to gene dosage sensitivity. Hum Genet 2014, 133, 1117-1125, doi:10.1007/s00439-014-1455-z.

3. 3. Ng, S.B.; Buckingham, K.J.; Lee, C.; Bigham, A.W.; Tabor, H.K.; Dent, K.M.; Huff, C.D.; Shannon, P.T.; Jabs, E.W.; Nickerson, D.A.; et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 2010, 42, 30-35, doi:10.1038/ng.499.

4. 4. Satokata, I.; Maas, R. Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat Genet 1994, 6, 348-356, doi:10.1038/ng0494-348.

5. 5. Qiao, L.; Yang, Y.; Fu, P.; Hu, S.; Zhou, H.; Peng, S.; Tan, J.; Lu, Y.; Lou, H.; Lu, D.; et al. Genome-wide variants of Eurasian facial shape differentiation and a prospective model of DNA based face prediction. J Genet Genomics 2018, 45, 419-432, doi:10.1016/j.jgg.2018.07.009.