A homozygous missense mutation in TBPL2 is associated with oocyte maturation arrest and degeneration
| Autor: | Yunxia Cao, Shuai Kong, Yan Hao, Mingfei Xiang, Lingli Huang, Yu Wang, Zhaojuan Yu, Xuanming Shi, Gaojie Song, Fengsong Wang, Qianhua Xu, Fuxi Zhu |
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| Rok vydání: | 2021 |
| Předmět: |
Adult
0301 basic medicine Consanguineous family Mutation Missense Degeneration (medical) 030105 genetics & heredity Biology Andrology Consanguinity 03 medical and health sciences Oogenesis Exome Sequencing Genetics medicine Humans Missense mutation Genetics (clinical) Cell Death TATA-Box Binding Protein Homozygote Female infertility Nuclear Proteins medicine.disease Oocyte Pedigree Maturation arrest 030104 developmental biology medicine.anatomical_structure Mutation (genetic algorithm) TATA Box Binding Protein-Like Proteins Female Infertility Female |
| Zdroj: | Clinical Genetics. 100:324-328 |
| ISSN: | 1399-0004 0009-9163 |
| Popis: | The genetic causes in most of patients with oocyte maturation arrest remain largely unknown. In this study, we identified a homozygous missense mutation in TBPL2 (TATA box binding protein like 2) in two infertile sisters with oocyte maturation arrest and degeneration from a consanguineous family by whole-exome sequencing. The TBPL2 mutation is rare and pathogenic, and impaired the transcription initiation function of the protein. Our results showed that TBPL2 might be associated with female infertility due to oocyte maturation arrest and degeneration. This article is protected by copyright. All rights reserved. |
| Databáze: | OpenAIRE |
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