Critical role of Yp inversion in &lt;i&gt;PRKX/PRKY&lt;/i&gt;-mediated Xp;Yp translocation in a patient with 45,X testicular disorder of sex development

Nakashima, Satoru; Watanabe, Yoriko; Okada, Jiro; Ono, Hiroyuki; Nagata, Eiko; Fukami, Maki; Ogata, Tsutomu

doi:10.1507/endocrj.ej13-0334

Cited by 8 publications

(6 citation statements)

References 17 publications

(32 reference statements)

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“…The signature was used to predict OS in patients with BCa to better understand the role of these genes. Among them, studies have shown that PRKY only plays an important role in the male reproductive system, 38 and AKR1B15 has a unique effect on the higher activity of steroids and ketones. 39 Subsequently, we found that compared with the low-risk group, patients in the high-risk group had a worse prognosis and higher sensitivity to cisplatin, docetaxel, camptothecin, and paclitaxel.…”

Section: Discussionmentioning

confidence: 99%

Gender dimorphism in survival of patients with lymph node metastasis of bladder cancer

et al. 2022

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Background: The effect of gender on the prognosis of bladder cancer (BCa) in different metastatic sites is insufficiently understood. We aimed to assess the impact and potential mechanisms of a combination of gender dimorphism and BCa metastasis sites on the risk of death. Methods: Independent predictors of overall survival and cancer-specific survival were analyzed after stratification by gender and metastasis sites from the Surveillance, Epidemiology, and End Results database. Furthermore, gender-differentially expressed genes (DEGs) and function-enriched annotations for patients with lymph node metastasis (LNM) were identified from The Cancer Genome Atlas (TCGA) database. A gender-associated signature was constructed in TCGA and validated in the IMvigor210 trial, and the magnetic resonance imaging-based radiomics signature was developed in our center to predict the gender-associated signature. Results: In patients with metastatic BCa, the most common site of metastasis is bone in men and lung in women. Moreover, stratified by sex, LNM had a better prognosis in men than visceral metastasis, which was not observed in female. Similarly, stratified by the metastasis site, the prognosis of men in patients with LNM is better than that of women, which was not observed in visceral metastasis patients. Enrichment of DEGs between sexes in patients with LNM may be related to metastasis and tumor immunity, especially the role of neutrophils. Moreover, the gender-associated signature is related to the clinicopathological characteristics of patients, and patients in the high-risk group had worse survival outcomes, and higher susceptibility to cisplatin, docetaxel, camptothecin, and paclitaxel. A nomogram combined with the signature and clinical staging showed significant predictive power in survival prediction. Furthermore, patients with high radiomics scores had a strong tendency for high-risk group. Conclusion: These results may improve the understanding of the differences in tumor biology between sexes and thus provide additional evidence for individualized treatment in BCa.

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Section: Discussionmentioning

confidence: 99%

Gender dimorphism in survival of patients with lymph node metastasis of bladder cancer

et al. 2022

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“…PRKY is similar to the protein kinase X-linked gene in the PAR and is classified as a transcribed pseudogene. However, abnormal recombination between this gene and a related gene on the chromosome X is a frequent cause of XX males and XY females [ 19 ]. Meyfour et al reported alterations in the mRNA and protein levels of TBL1Y , PCDH11Y , ZFY , KDM5D , USP9Y , RPS4Y1 , DDX3Y , PRY , XKRY , BCORP1 , RBMY , HSFY , and UTY accompanied by changes in intracellular localization during cardiac differentiation of human embryonic stem cells (hESCs) [ 20 ].…”

Section: Discussionmentioning

confidence: 99%

Molecular characterization of the Yp11.2 region deletion in the Chinese Han population

et al. 2021

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The Y chromosome is male-specific and is important for spermatogenesis and male fertility. However, the Y chromosome is poorly characterized due to massive palindromes and inverted repeats, which increase the likelihood of genomic rearrangements, resulting in short tandem repeats on the Y chromosome or long fragment deletions. The present study reports a large-scale (2.573~2.648 Mb) deletion in the Yp11.2 region in a Chinese population based on the analysis of 34 selected Y-specific sequence-tagged sites and subsequent sequencing of the breakpoint junctions on the Y chromosome from 5,068,482–5,142,391 bp to 7,715,462–7,716,695 bp. The results of sequence analysis indicated that the deleted region included part or all of the following five genes: PCDH11Y, TSPY, AMELY, TBL1Y, and RKY. These genes are associated with spermatogenesis or amelogenesis and various other processes; however, specific physiological functions and molecular mechanisms of these genes remain unclear. Notably, individuals with this deletion pattern did not have an obvious pathological phenotype but manifested some degree of amelogenesis imperfecta.

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“…No copy number outside this range is found in the current population, which may have a certain impact on individual survival or key developmental processes ( Rogers, 2021 ). Abnormal translocation between the homologous genes PRKX and PRKY can also lead to the loss of TSPY ( Nakashima et al, 2013 ).…”

Section: Repetitive Sequences Of the Y Chromosomementioning

confidence: 99%

Repetitive DNA Sequences in the Human Y Chromosome and Male Infertility

Xu¹,

Pang

2022

Front. Cell Dev. Biol.

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The male-specific Y chromosome, which is well known for its diverse and complex repetitive sequences, has different sizes, genome structures, contents and evolutionary trajectories from other chromosomes and is of great significance for testis development and function. The large number of repetitive sequences and palindrome structure of the Y chromosome play an important role in maintaining the stability of male sex determining genes, although they can also cause non-allelic homologous recombination within the chromosome. Deletion of certain Y chromosome sequences will lead to spermatogenesis disorders and male infertility. And Y chromosome genes are also involved in the occurrence of reproductive system cancers and can increase the susceptibility of other tumors. In addition, the Y chromosome has very special value in the personal identification and parentage testing of male-related cases in forensic medicine because of its unique paternal genetic characteristics. In view of the extremely high frequency and complexity of gene rearrangements and the limitations of sequencing technology, the analysis of Y chromosome sequences and the study of Y-gene function still have many unsolved problems. This article will introduce the structure and repetitive sequence of the Y chromosome, summarize the correlation between Y chromosome various sequence deletions and male infertility for understanding the repetitive sequence of Y chromosome more systematically, in order to provide research motivation for further explore of the molecules mechanism of Y-deletion and male infertility and theoretical foundations for the transformation of basic research into applications in clinical medicine and forensic medicine.

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Critical role of Yp inversion in <i>PRKX/PRKY</i>-mediated Xp;Yp translocation in a patient with 45,X testicular disorder of sex development

Cited by 8 publications

References 17 publications

Gender dimorphism in survival of patients with lymph node metastasis of bladder cancer

Gender dimorphism in survival of patients with lymph node metastasis of bladder cancer

Molecular characterization of the Yp11.2 region deletion in the Chinese Han population

Repetitive DNA Sequences in the Human Y Chromosome and Male Infertility

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