Differential Expression of DUB Genes in Ovarian Cells Treated with Di-2-Ethylhexyl Phthalate

Lee, Da-Hye; Park, Junhyeok; Choi, Jina; Lee, Kyung‐Ju; Yun, Bo-Seong; Baek, Kwang‐Hyun

doi:10.3390/ijms21051755

Cited by 3 publications

(2 citation statements)

References 37 publications

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“…Similarly, VEGFA plays an important role in ovarian morphogenesis (McFee & Cupp, 2013). Lee, Park, et al (2020) showed that USP49 was one of the potential biomarkers of premature ovarian failure. Gao et al (2021) illustrated that USP25 affected granulosa cell apoptosis by regulating the PI3K/AKT signalling pathway.…”

Section: Discussionmentioning

confidence: 99%

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Identifying selection signatures for litter size in Guangxi Bama Xiang pigs

GangYan

et al. 2022

Reprod Domestic Animals

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Litter size is an important economic trait in pig production. However, the genetic mechanisms underlying varying litter size in Guangxi Bama Xiang pigs remain unknown. To identify selection signatures for litter size in Guangxi Bama Xiang pigs, we obtained 297 Illumina PorcineSNP50 BeadChip array data and the average born number (ABN) from parity one to nine in Guangxi Bama Xiang pigs. Fixation index (Fst) methods were used to identify the selection signature of the litter size, and three phenotypic gradient differential population pairs (according to the ABN) in individuals were used to reduce the false positives of signature selections. Single nucleotide polymorphisms (SNPs) were identified in the VEGFA promoter and exons. The general linear model was used to analyse the differences in distinct genotypes after they were typed using three‐round multiplex PCR technology. Finally, the transcriptome factor and CpG island in the VEGFA promoter were predicted. A total of 328, 328 and 317 significant loci were identified in the 1st, 2nd and 3rd population pairs, respectively. After removing the false positives, 25 SNPs were defined as the selection signatures in relation to litter size. Ten (VEGFA, USP49, USP25, SRPK1, SLC26A8, RPL10A, PPARD, MAPK14, HMGA1 and CHRDL2) out of 52 genes in the selection regions were annotated as the candidate genes of litter size, respectively, VEGFA. There were no SNPs in the VEGFA exon region, but we obtained three SNPs (rs786889605, rs343769603 and rs323942424) in the VEGFA promoter regions. The ABN in CC was significantly higher than that in TT in rs786889605, and the ABN in TT was significantly lower than that in GG in rs323942424. Meanwhile, the mutation of the VEGFA promoter result in the loss of Sp1 and NF‐1 and the formation of Oct‐1. In summary, we obtained ten candidate genes, and two mutations in the VEGFA promoter that could be important potential molecular biomarkers for litter size in Bama Xiang pigs.

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Section: Discussionmentioning

confidence: 99%

“…tant role in ovarian morphogenesis(McFee & Cupp, 2013) Lee, Park, et al (2020). showed that USP49 was one of the potential biomarkers of premature ovarian failure Gao et al (2021).…”

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confidence: 99%

Identifying selection signatures for litter size in Guangxi Bama Xiang pigs

GangYan

et al. 2022

Reprod Domestic Animals

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Functional implications of paralog genes in polyglutamine spinocerebellar ataxias

Felício,

du Mérac,

Amorim

et al. 2023

Hum. Genet.

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Polyglutamine (polyQ) spinocerebellar ataxias (SCAs) comprise a group of autosomal dominant neurodegenerative disorders caused by (CAG/CAA)n expansions. The elongated stretches of adjacent glutamines alter the conformation of the native proteins inducing neurotoxicity, and subsequent motor and neurological symptoms. Although the etiology and neuropathology of most polyQ SCAs have been extensively studied, only a limited selection of therapies is available. Previous studies on SCA1 demonstrated that ATXN1L, a human duplicated gene of the disease-associated ATXN1, alleviated neuropathology in mice models. Other SCA-associated genes have paralogs (i.e., copies at different chromosomal locations derived from duplication of the parental gene), but their functional relevance and potential role in disease pathogenesis remain unexplored. Here, we review the protein homology, expression pattern, and molecular functions of paralogs in seven polyQ dominant ataxias—SCA1, SCA2, MJD/SCA3, SCA6, SCA7, SCA17, and DRPLA. Besides ATXN1L, we highlight ATXN2L, ATXN3L, CACNA1B, ATXN7L1, ATXN7L2, TBPL2, and RERE as promising functional candidates to play a role in the neuropathology of the respective SCA, along with the parental gene. Although most of these duplicates lack the (CAG/CAA)n region, if functionally redundant, they may compensate for a partial loss-of-function or dysfunction of the wild-type genes in SCAs. We aim to draw attention to the hypothesis that paralogs of disease-associated genes may underlie the complex neuropathology of dominant ataxias and potentiate new therapeutic strategies.

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The need to identify novel biomarkers for prediction of premature ovarian insufficiency (POI)

Kabodmehri

Sharami

Sorouri

et al. 2022

Middle East Fertil Soc J

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Background Premature ovarian failure (POF)/premature ovarian insufficiency (POI) is characterized by disrupting ovarian function under 40 years old. A major health problem of this disorder is female infertility. There are no proven treatments to increase the rate of pregnancy with autologous oocytes in these patients. This review aims to summarize our present knowledge about POI-induced infertility treatments and to highlight the importance of future researches in the discovery of diagnostic biomarkers and treatment of patients with this disorder. Methods A literature review was carried out using PubMed and Google Scholar databases by relevant keywords, such as POI, POF, premature ovarian failure, premature ovarian insufficiency, and biomarkers. Results Two hundred three studies were included in the study following the search for the keywords. Titles and abstracts of the identified articles were evaluated for detecting relevant full-length articles. Conclusion Anti-Mullerian hormone (AMH) level appears to have considerable value as a diagnostic test for POI, but it is not reliable enough to be able to predict accurately the timing of onset of impending POI. Using an accurate biomarker, POI can be diagnosed early and infertility treatment that is concerned about can be done on time. Biomarkers in combination with other diagnostic tests could result in prediction of POI before the development of complete ovarian failure.

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Differential Expression of DUB Genes in Ovarian Cells Treated with Di-2-Ethylhexyl Phthalate

Cited by 3 publications

References 37 publications

Identifying selection signatures for litter size in Guangxi Bama Xiang pigs

Identifying selection signatures for litter size in Guangxi Bama Xiang pigs

Functional implications of paralog genes in polyglutamine spinocerebellar ataxias

The need to identify novel biomarkers for prediction of premature ovarian insufficiency (POI)

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