Mitochondrial heteroplasmy profiling in single human oocytes by next-generation sequencing

被引：2

作者：

Ancora, Massimo ^{[1
]}

Orsini, Massimiliano ^{[1
]}

Colosimo, Alessia ^{[2
]}

Russo, Valentina ^{[2
]}

Marcacci, Maurilia ^{[1
]}

De Santo, Maria ^{[3
]}

D'Aurora, Marco ^{[4
]}

Stuppia, Liborio ^{[4
]}

Gatta, Valentina ^{[4
]}

Barboni, Barbara ^{[2
]}

Camma, Cesare ^{[1
]}

Mattioli, Mauro ^{[1
]}

机构：

[1] Ist Zooprofilatt Sperimentale Abruzzo & Molise G, Via Campo Boario, I-64100 Teramo, Italy

[2] Univ Teramo, Fac Biosci & Tecnol Agroalimentari & Ambientali, Teramo, Italy

[3] Casa Cura Privata Synergo Pierangeli, Chieti, Italy

[4] Univ G DAnnunzio, Dipartimento Sci Psicol Salute & Terr, Chieti, Italy

来源：

MITOCHONDRIAL DNA PART B-RESOURCES | 2017年 / 2卷 / 02期

关键词：

Heteroplasmic mutations; human oocyte; mitochondrial DNA; next-generation sequencing;

D O I：

10.1080/23802359.2017.1365634

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Mitochondrial DNA (mtDNA) plays a key role in the development of a competent oocyte. Mutations of the mitochondrial genome lead to an altered energetic metabolism with negative effects on oocyte developmental competence. In this study, mtDNA heteroplasmy at an intra-oocyte level and between the different analyzed human oocytes (n = 12) was identified by a next-generation sequencing (NGS) protocol previously developed by this research group and submitted to GenBank. This method highlighted, in particular, variants in the genes involved in the respiratory chain providing a direct indication of the cell-specific damage within the mitochondrial genome as predictor of the oocyte quality.

引用

页码：542 / 543

页数：2

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