Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8644788 | Gene | 2018 | 6 Pages |
Abstract
We report two Egyptian male genomes (EGP1 and EGP2) sequenced at ~ 30à sequencing depths. EGP1 had 4.7 million variants, where 198,877 were novel variants while EGP2 had 209,109 novel variants out of 4.8 million variants. The mitochondrial haplogroup of the two individuals were identified to be H7b1 and L2a1c, respectively. We also identified the Y haplogroup of EGP1 (R1b) and EGP2 (J1a2a1a2â¯>â¯P58â¯>â¯FGC11). EGP1 had a mutation in the NADH gene of the mitochondrial genome ND4 (m.11778â¯Gâ¯>â¯A) that causes Leber's hereditary optic neuropathy. Some SNPs shared by the two genomes were associated with an increased level of cholesterol and triglycerides, probably related with Egyptians obesity. Comparison of these genomes with African and Western-Asian genomes can provide insights on Egyptian ancestry and genetic history. This resource can be used to further understand genomic diversity and functional classification of variants as well as human migration and evolution across Africa and Western-Asia.
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Biochemistry, Genetics and Molecular Biology
Genetics
Authors
Mahmoud ElHefnawi, Sungwon Jeon, Youngjune Bhak, Asmaa ElFiky, Ahmed Horaiz, JeHoon Jun, Hyunho Kim, Jong Bhak,