Mutant ZP1 in Familial Infertility
Autor: | Xue-Mei He, Hong-Mei Xiao, Hong-Wen Deng, Chao Lv, Ping Li, Guang-Xiu Lu, Wen Li, Hua-Lin Huang, Xiao Tian, Christopher J. Papasian, Ai-Guo Sha, Ying-Chun Zhao |
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Rok vydání: | 2014 |
Předmět: |
Adult
China Heterozygote endocrine system Zona pellucida glycoprotein DNA Mutational Analysis Egg protein Genes Recessive Receptors Cell Surface Zona Pellucida Glycoproteins Article Frameshift mutation medicine Humans Frameshift Mutation Zona pellucida reproductive and urinary physiology Ovum Membrane Glycoproteins biology urogenital system Egg Proteins Homozygote Female infertility General Medicine medicine.disease Oocyte Molecular biology Pedigree Membrane glycoproteins medicine.anatomical_structure Cytoplasm embryonic structures biology.protein Female Infertility Female |
Zdroj: | New England Journal of Medicine. 370:1220-1226 |
ISSN: | 1533-4406 0028-4793 |
DOI: | 10.1056/nejmoa1308851 |
Popis: | The human zona pellucida is composed of four glycoproteins (ZP1, ZP2, ZP3, and ZP4) and has an important role in reproduction. Here we describe a form of infertility with an autosomal recessive mode of inheritance, characterized by abnormal eggs that lack a zona pellucida. We identified a homozygous frameshift mutation in ZP1 in six family members. In vitro studies showed that defective ZP1 proteins and normal ZP3 proteins colocalized throughout the cells and were not expressed at the cell surface, suggesting that the aberrant ZP1 results in the sequestration of ZP3 in the cytoplasm, thereby preventing the formation of the zona pellucida around the oocyte. |
Databáze: | OpenAIRE |
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