CPEB1 deletion is not a common explanation for premature ovarian insufficiency in a Chinese cohort
Abstract Purpose Premature ovarian insufficiency (POI), which is characterized by early menopause before the age of 40 years, affects approximately 1–5% of women. Cytoplasmic polyadenylation element binding protein 1 (CPEB1) is a post-transcriptional regulatory protein that is highly expressed in ge...
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doaj-eb4dbfd1d8784ef0b570cff5c1864ac32020-11-25T02:01:58ZengBMCJournal of Ovarian Research1757-22152020-04-011311410.1186/s13048-020-00630-xCPEB1 deletion is not a common explanation for premature ovarian insufficiency in a Chinese cohortWenlin Jiao0Shidou Zhao1Ran Liu2Ting Guo3Yingying Qin4Center for Reproductive Medicine, Cheeloo College of Medicine, Shandong UniversityCenter for Reproductive Medicine, Cheeloo College of Medicine, Shandong UniversityCenter for Reproductive Medicine, Cheeloo College of Medicine, Shandong UniversityCenter for Reproductive Medicine, Cheeloo College of Medicine, Shandong UniversityCenter for Reproductive Medicine, Cheeloo College of Medicine, Shandong UniversityAbstract Purpose Premature ovarian insufficiency (POI), which is characterized by early menopause before the age of 40 years, affects approximately 1–5% of women. Cytoplasmic polyadenylation element binding protein 1 (CPEB1) is a post-transcriptional regulatory protein that is highly expressed in germ cells and promotes oocytes maturation, and several studies have found microdeletions of chromosome 15q25.2, which contains the CPEB1 gene, in POI patients. However, the deleted region also includes other plausible genes, and thus the contribution of CPEB1 to POI is uncertain. The present study aimed to determine the relationship between CPEB1 deletion and POI in a Chinese cohort. Material and methods Quantitative real-time polymerase chain reaction (qPCR) with primers for exon 4 and exon 11 of CPEB1 was performed to detect the CPEB1 deletion in 323 patients with POI and in 300 healthy controls. Subsequent qPCR with primers for each exon of CPEB1 was performed to precisely localize the deletion locus. Results One patient with primary amenorrhea was found to carry a heterozygous deletion of exons 8–12 of the CPEB1 gene. Conclusion Our study is the first to search for CPEB1 deletions in POI patients using a simple qPCR method, and we show that CPEB1 deletion is not a common cause for POI in a Chinese cohort.http://link.springer.com/article/10.1186/s13048-020-00630-xCPEB1POIMicrodeletionMeiosisPolyadenylation |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Wenlin Jiao Shidou Zhao Ran Liu Ting Guo Yingying Qin |
spellingShingle |
Wenlin Jiao Shidou Zhao Ran Liu Ting Guo Yingying Qin CPEB1 deletion is not a common explanation for premature ovarian insufficiency in a Chinese cohort Journal of Ovarian Research CPEB1 POI Microdeletion Meiosis Polyadenylation |
author_facet |
Wenlin Jiao Shidou Zhao Ran Liu Ting Guo Yingying Qin |
author_sort |
Wenlin Jiao |
title |
CPEB1 deletion is not a common explanation for premature ovarian insufficiency in a Chinese cohort |
title_short |
CPEB1 deletion is not a common explanation for premature ovarian insufficiency in a Chinese cohort |
title_full |
CPEB1 deletion is not a common explanation for premature ovarian insufficiency in a Chinese cohort |
title_fullStr |
CPEB1 deletion is not a common explanation for premature ovarian insufficiency in a Chinese cohort |
title_full_unstemmed |
CPEB1 deletion is not a common explanation for premature ovarian insufficiency in a Chinese cohort |
title_sort |
cpeb1 deletion is not a common explanation for premature ovarian insufficiency in a chinese cohort |
publisher |
BMC |
series |
Journal of Ovarian Research |
issn |
1757-2215 |
publishDate |
2020-04-01 |
description |
Abstract Purpose Premature ovarian insufficiency (POI), which is characterized by early menopause before the age of 40 years, affects approximately 1–5% of women. Cytoplasmic polyadenylation element binding protein 1 (CPEB1) is a post-transcriptional regulatory protein that is highly expressed in germ cells and promotes oocytes maturation, and several studies have found microdeletions of chromosome 15q25.2, which contains the CPEB1 gene, in POI patients. However, the deleted region also includes other plausible genes, and thus the contribution of CPEB1 to POI is uncertain. The present study aimed to determine the relationship between CPEB1 deletion and POI in a Chinese cohort. Material and methods Quantitative real-time polymerase chain reaction (qPCR) with primers for exon 4 and exon 11 of CPEB1 was performed to detect the CPEB1 deletion in 323 patients with POI and in 300 healthy controls. Subsequent qPCR with primers for each exon of CPEB1 was performed to precisely localize the deletion locus. Results One patient with primary amenorrhea was found to carry a heterozygous deletion of exons 8–12 of the CPEB1 gene. Conclusion Our study is the first to search for CPEB1 deletions in POI patients using a simple qPCR method, and we show that CPEB1 deletion is not a common cause for POI in a Chinese cohort. |
topic |
CPEB1 POI Microdeletion Meiosis Polyadenylation |
url |
http://link.springer.com/article/10.1186/s13048-020-00630-x |
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