CDK1 mediates the metabolic regulation of DNA double-strand break repair in metaphase II oocytes.

Background: During oocyte maturation, DNA double-strand breaks (DSBs) can decrease oocyte quality or cause mutations. How DSBs are repaired in dividing oocytes and which factors influence DSB repair are not well understood.

Results: By analyzing DSB repair pathways in oocytes at different stages, we found that break-induced replication (BIR) and RAD51-mediated homology-directed repair (HDR) were highly active in germinal vesicle breakdown (GVBD) oocytes but suppressed in metaphase II (MII) oocytes and the BIR in oocytes was promoted by CDK1 activity.

Downstream transcription promotes human recurrent CNV associated AT-rich sequence mediated genome rearrangements in yeast.

AT-rich sequence can cause structure variants such as translocations and its instability can be accelerated by replication stresses. When human 16p11.2 or 22q11.

Dynamic of centromere associated RNAs and the centromere loading of DNA repair proteins in growing oocytes.

Mammalian centromeres are generally composed of dispersed repeats and the satellites such as α-satellites in human and major/minor satellites in mouse. Transcription of centromeres by RNA polymerase II is evolutionary conserved and critical for kinetochore assembly. In addition, it has been found that the transcribed satellite RNAs can bind DNA repair proteins such as MRE11 and PRKDC, and excessively expressed satellite RNAs could induce genome instability and facilitate tumorigenesis.

Analysis of factors affecting testicular spermatogenesis capacity by using the tissue transcriptome data from GTEx.

In human, endo- or exogeneous factors might alter the cellular composition, the endocrine and inflammatory micro-environments and the metabolic balance in testis. These factors will further impair the testicular spermatogenesis capacity and alter the transcriptome of testis. Conversely, it should be possible that the alteration of the transcriptomes in testes be used as an indicator to evaluate the testicular spermatogenesis capacity and to predict the causing factors.

Germline cell de novo mutations and potential effects of inflammation on germline cell genome stability.

Uncontrolled pathogenic genome mutations in germline cells might impair adult fertility, lead to birth defects or even affect the adaptability of a species. Understanding the sources of DNA damage, as well as the features of damage response in germline cells are the overarching tasks to reduce the mutations in germline cells. With the accumulation of human genome data and genetic reports, genome variants formed in germline cells are being extensively explored.