Expression pattern of HSFY in the mouse testis and epididymis with and without heat stress.

Heat shock factors (HSFs) are critical regulators of spermatogenesis. However, heat shock responses, the associated components and the underlying functional mechanisms remain to be elucidated. Here, we characterize the expression pattern of HSFY, a member of the HSF family in the testis and epididymis. Its expression in testis and epididymis was initially identified by western blots. Immunofluorescence staining demonstrated that HSFY was confined to the cytoplasm of late spermatocytes and spermatids in adult testes, gonocytes in newborn testes and undifferentiated spermatogonia in 7 days post-parturition testes. In the epididymis, HSFY was predominantly expressed in principal cells. Furthermore, a single transient scrotal heat stress did not change HSFY protein expression in the testes or epididymis, either on the expressional level or in cellular localization. In summary, this study detected the expression pattern of HSFY in the testes and epididymis and demonstrated that its expression was not regulated by transient elevated temperature.

Abnormal detection of Y-STR alleles at DYS385 from female DNA in forensic casework and interchromosomal insertional translocation of P4 palindrome (HSFY/DYS385) from AZFb region.

The unknown origin of DNA samples derived from crime scenes generates a considerable amount of uncertainty, as do unexpected short tandem repeat (STR) results caused by sample mix-ups, contamination, medical interventions, and transgender individuals (broad meaning). Genetic abnormalities such as somatic/germline mutations, mosaicism or chimerism, sex reversal cases, aneuploidies, and chromosomal structural rearrangements are also possible causes of such results. The evidence offered by the present study suggested that additional DYS385 alleles, as seen in mixed stain samples and in the potentially single-source DNA profile of a female, originated from the female DNA source only. For the case reported here, we propose an interchromosomal insertion hypothesis, in which a 768-kb segment including the P4 palindrome of the azoospermia factor (AZFb) region was deleted from the Y chromosome and inserted into the X chromosome or an autosome during male meiosis. Y-SNP data points from the AccuID platform and in-house PCR assays narrowed down the expected length of the target region. Bioinformatics analysis followed by whole genome amplification and whole genome sequencing showed that a 529-kb segment including the P4 palindrome (HSFY/DYS385)/DYS460 region from the female sample mapped to the Y reference sequence (GRCh37). To our knowledge, the interchromosomal insertional translocation event was identified as an unknown type of genomic rearrangement in the forensic genetic field.