Article
Genetics & Heredity
Lisa G. Shaffer, Bradley Hopp, Marek Switonski, Adam Zahand, Blake C. Ballif
Summary: Microarray analysis is an efficient method for identifying cytogenetic imbalances in humans, particularly through the use of SNP arrays. However, this approach is not widely used in clinical practice for canines. The first study utilizing microarray analysis to identify chromosomal anomalies in canines found cases of aneuploidy, indicating potential for uncovering more cases as this technology becomes more routine in canine genetic testing.
Review
Biology
Alexandr Sember, Petr Nguyen, Manolo F. Perez, Marie Altmanova, Petr Rab, Marcelo de Bello Cioffi
Summary: This review provides insights into the characteristics and evolutionary trends of multiple sex chromosome systems in teleost fishes, pointing out the predominance of male-heterogametic systems and the possible constraints on sex chromosome turnover in female-heterogametic systems. Furthermore, the study highlights the importance of broader inter-population sampling in understanding the evolution of multiple sex chromosomes in fishes.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2021)
Article
Urology & Nephrology
Anthony D'Oro, Ilina Rosoklija, Elizabeth B. Yerkes, Bruce W. Lindgren, Karen Rychlik, Earl Y. Cheng
Summary: Patients with proximal hypospadias have an increased risk of acquired cryptorchidism, and operative notes reveal a high rate of epididymal nonfusion with ascended testes. Close monitoring of testis position is necessary for these patients.
JOURNAL OF UROLOGY
(2021)
Article
Endocrinology & Metabolism
Yohei Masunaga, Yasuko Fujisawa, Francesco Massart, Claudio Spinelli, Yoshiyuki Kojima, Kentaro Mizuno, Yutaro Hayashi, Isoji Sasagawa, Rie Yoshida, Fumiko Kato, Maki Fukami, Naoyuki Kamatani, Hirotomo Saitsu, Tsutomu Ogata
Summary: The AGATC haplotype is strongly associated with cryptorchidism in Italian boys. The study identified a 2249-bp microdeletion (?ESR1) in boys with the specific haplotype, which is strongly associated with cryptorchidism and hypospadias. This finding suggests that ?ESR1 is the true susceptibility factor for cryptorchidism and hypospadias.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Multidisciplinary Sciences
Ryoji Shinya, Simo Sun, Mehmet Dayi, Isheng Jason Tsai, Atsushi Miyama, Anthony Fu Chen, Koichi Hasegawa, Igor Antoshechkin, Taisei Kikuchi, Paul W. Sternberg
Summary: The authors demonstrate that sex determination in Bursaphelenchus nematodes is likely regulated by a random, epigenetic mechanism, rather than the more well-known mechanisms of chromosomal or environmental sex determination.
NATURE COMMUNICATIONS
(2022)
Article
Multidisciplinary Sciences
Pierre Bougneres, Raphael Porcher, Laure Esterle, David Baker, Adrien de la Vaissiere, Sofia Meurisse, Sophie Valtat, Anne-Laure Castell, Pierre Mouriquand, Alain-Jacques Valleron
Summary: The study investigated the association between living close to vineyards and the risk of hypospadias. It found that children born to mothers living near vineyards have a two-fold increased risk of hypospadias compared to those living farther away. Using virtual controls provides an alternative method for environmental research.
Article
Biochemistry & Molecular Biology
Matthew A. Conte, Frances E. Clark, Reade B. Roberts, Luohao Xu, Wenjing Tao, Qi Zhou, Deshou Wang, Thomas D. Kocher
Summary: This study investigates the evolution of a giant sex chromosome in cichlid fish, finding that it consists of three distinct regions and contains unprecedented amounts of endogenous retroviral elements, immunoglobulin genes, and long non-coding RNAs. Comparative analysis across 69 teleost genomes supports the hypothesis that the giant sex chromosome originated from the fusion of a B chromosome.
MOLECULAR BIOLOGY AND EVOLUTION
(2021)
Article
Urology & Nephrology
Vuthy Ea, Anne Bergougnoux, Pascal Philibert, Nadege Servant-Fauconnet, Alice Faure, Jean Breaud, Laura Gaspari, Charles Sultan, Francoise Paris, Nicolas Kalfa
Summary: The study evaluated the clinical utility of NGS for patients with hypospadias and found that even mild cases can benefit from advanced sequencing techniques. Some variants of unknown significance (VUSs) were identified, but most cases remain unexplained.
Article
Biotechnology & Applied Microbiology
Nararat Laopichienpong, Ekaphan Kraichak, Worapong Singchat, Siwapech Sillapaprayoon, Narongrit Muangmai, Sunutcha Suntrarachun, Sudarath Baicharoen, Surin Peyachoknagul, Lawan Chanhome, Tariq Ezaz, Kornsorn Srikulnath
Summary: By studying the W sex chromosome of the Siamese cobra and utilizing Diversity Arrays Technology, researchers have uncovered linkage homologies among sex chromosomes of several amniotes, confirmed W-specific nucleotides, and shed light on the process of sex chromosome differentiation.
Review
Genetics & Heredity
Zimeng Gao, Stephanie M. Rice, Sascha Wodoslawsky, Sara C. Long, Zi-Xuan Wang, Mehnoosh Torkzaban, Ana Milena Angarita Africano, Jinglan Liu, Huda B. Al-Kouatly
Summary: By conducting a systematic literature review, we aimed to determine the spectrum of cytogenetic abnormalities and outcomes in unbalanced offspring of asymptomatic constitutional balanced t(9;22) carriers. Our study found that the unbalanced translocations resulted in various syndromes, including intellectual disability, cardiac abnormalities, and facial or skeletal dysmorphias.
FRONTIERS IN GENETICS
(2022)
Article
Multidisciplinary Sciences
Jason Ioannidis, Gunes Taylor, Debiao Zhao, Long Liu, Alewo Idoko-Akoh, Daoqing Gong, Robin Lovell-Badge, Silvana Guioli, Mike J. McGrew, Michael Clinton
Summary: In birds, sex determination is thought to depend on a sex chromosome gene dosage mechanism, with the gene DMRT1 playing a key role. Experiments showed that ZZ chickens lacking DMRT1 developed ovaries instead of testes, while blocking estrogen synthesis in ZW embryos led to testis development, highlighting the interconnected roles of DMRT1 and estrogen in avian sex determination.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Biochemistry & Molecular Biology
Shuisheng Li, Wanshun Li, Shoujia Jiang, Yi Jing, Ling Xiao, Yangyang Yu, Yun Liu, Yanhong Li, Dengdong Wang, Jiang Li, Cheng Peng, Jiaxing Chen, Danqi Lu, Bin Wu, Xuanmin Guang, Junping Ma, Xinxin You, Yuqing Yang, Su Liu, Xiaodong Fang, Qiang Gao, Qiong Shi, Haoran Lin, Manfred Schartl, Zhen Yue, Yong Zhang
Summary: In this study, a high-quality genome assembly of orange-spotted grouper was reported, providing insights into the molecular mechanisms underlying the unique reproductive strategy of sex differentiation and sex change in protogynous groupers. Transcriptomic analyses revealed the involvement of aromatase and retinoic acid in ovarian fate determination, and the role of follicle-stimulating hormone in female-to-male sex change. Socially controlled sex-change studies showed that the brain's response to social environment may be mediated by the phototransduction cascade and melatonin synthesis pathway.
MOLECULAR ECOLOGY RESOURCES
(2023)
Article
Biochemistry & Molecular Biology
Cheng Yang, Liangming Chen, Rong Huang, Bin Gui, Yangyu Li, Yangyang Li, Yongming Li, Lanjie Liao, Zuoyan Zhu, Yaping Wang
Summary: In this study, the chromosome-level genome of a female mandarin fish was assembled, revealing 61 genes on the X chromosome that showed sex-biased expression. Only a few genes were expressed in the testes, while the expression of the other genes in the ovaries was significantly higher. These genes may be involved in early sex determination and female growth.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Multidisciplinary Sciences
Silu Wang, Matthew J. Nalley, Kamalakar Chatla, Reema Aldaimalani, Ailene MacPherson, Kevin H-C Wei, Russell B. Corbett-Detig, Dat Mai, Doris Bachtrog
Summary: This study describes the conflicting roles of nascent sex chromosomes on introgression patterns in an experimental hybrid swarm. The researchers found that a large block containing overlapping inversions on the neo-sex chromosome acted as the strongest barrier to introgression. The study also investigated the interplay of sex chromosome drive, heterospecific pairing incompatibility, neo-Y disadvantage, and neo-X advantage in generating the observed introgression patterns.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Review
Biochemistry & Molecular Biology
Jolanta Kwasniewska, Adrianna Wiktoria Bara
Summary: Cytogenetic approaches are important for evaluating the genetic effects of mutagenic treatments, and although they are time-consuming, they are essential for studying cytotoxic and genotoxic effects and environmental monitoring. The micronucleus test is an important method for studying genotoxicity in plants, and recent advancements have expanded the scope of cytogenetic techniques beyond the detection of chromosome aberrations. However, there is limited knowledge about micronuclei in plants compared to humans and animals.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Urology & Nephrology
Kunj R. Sheth, Jeffrey T. White, Nicolette Janzen, Chester J. Koh, Paul F. Austin, David R. Roth, Duong D. Tu, Angela Mittel, Ming-Hsien Wang, Edmond T. Gonzales, Carolina Jorgez, Abhishek Seth
Article
Urology & Nephrology
Jonathan A. Gerber, Alexandra N. Borden, Jacqueline Broda, Sarah Koelewyn, Adithya Balasubramanian, Duong Tu, Chester J. Koh, Paul F. Austin, David R. Roth, Abhishek Seth
Review
Pediatrics
J. A. Gerber, A. Balasubramanian, C. J. Jorgez, M. A. Shukla, J. S. Jacob, H. Zhu, K. R. Sheth, A. Mittal, D. D. Tu, C. J. Koh, N. Janzen, M-H Wang, P. F. Austin, E. T. Gonzales, D. R. Roth, A. Seth
JOURNAL OF PEDIATRIC UROLOGY
(2019)
Article
Urology & Nephrology
Megan N. Perez, Alexandria M. Delozier, Christopher E. Aston, Paul Austin, Laurence Baskin, Yee-Ming Chan, Earl Y. Cheng, David A. Diamond, Allyson Fried, Saul Greenfield, Thomas Kolon, Bradley Kropp, Yegappan Lakshmanan, Sabrina Meyer, Theresa Meyer, Natalie Nokoff, Blake Palmer, Alethea Paradis, Dix Poppas, Kristy J. Scott Reyes, Jonathan M. Swartz, Amy Tishelman, Amy B. Wisniewski, Cortney Wolfe-Christensen, Elizabeth Yerkes, Larry L. Mullins
JOURNAL OF UROLOGY
(2019)
Article
Pediatrics
Candace C. Style, Danielle M. Hsu, Mariatu A. Verla, Angela G. Mittal, Paul Austin, Abhishek Seth, Jennifer E. Dietrich, Oluyemisi A. Adeyemi-Fowode, Jennifer L. Bercaw-Pratt, Eric H. Chiou, Bruno P. Chumpitazi, Amaka Akalonu, Veronica A. Victorian, Felicia R. Denner, Alexandra N. Borden, Marc A. Levitt, Jag R. Grooms, Gia G. Frazier, Kristy L. Rialon, Timothy C. Lee
JOURNAL OF PEDIATRIC SURGERY
(2020)
Article
Pediatrics
Avi Baskin, Amy B. Wisniewski, Christopher E. Aston, Paul Austin, Yee-Ming Chan, Earl Y. Cheng, David A. Diamond, Allyson Fried, Thomas Kolon, Yegappan Lakshmanan, Pierre Williot, Sabrina Meyer, Theresa Meyer, Bradley Kropp, Natalie Nokoff, Blake Palmer, Alethea Paradis, Dix Poppas, Brian VanderBrink, Kristy J. Scott Reyes, Amy Tishelman, Cortney Wolfe-Christensen, Elizabeth Yerkes, Larry L. Mullins, Laurence Baskin
JOURNAL OF PEDIATRIC UROLOGY
(2020)
Article
Medicine, Research & Experimental
Xinyi Wang, Swathi Balaji, Emily H. Steen, Alexander J. Blum, Hui Li, Christina K. Chan, Scott R. Manson, Thomas C. Lu, Meredith M. Rae, Paul F. Austin, Thomas N. Wight, Paul L. Bollyky, Jizhong Cheng, Sundeep G. Keswani
Article
Genetics & Heredity
Jonathan A. Gerber, Kunj R. Sheth, Paul F. Austin
Summary: Robinow syndrome presents unique genital findings such as penile transposition, buried penis, undescended testes, and other abnormalities. A study found decreased sexuality, sexual function, and self-perception in RS patients. Surgical approaches and interventions should be studied to address these issues.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Urology & Nephrology
Paul F. Austin, Israel Franco, Eric Dobremez, Pawel Kroll, Wilson Titanji, Till Geib, Brenda Jenkins, Piet B. Hoebeke
Summary: This study evaluated the safety and efficacy of three different doses of onabotulinumtoxinA for treating neurogenic detrusor overactivity in children. Results showed that 200 U dose was more effective in reducing bladder pressure and increasing bladder capacity, with similar safety profiles across all doses.
NEUROUROLOGY AND URODYNAMICS
(2021)
Article
Urology & Nephrology
Jonathan A. Gerber, Blair T. Stocks, Huirong Zhu, Heidi Castillo, Jonathan Castillo, Alexandra N. Borden, Duong D. Tu, William E. Whitehead, Paul F. Austin
Summary: This study focused on bladder outcomes with different prenatal MMC repairs and found that FMR had lower incidence of high-risk bladders and potentially better outcomes compared to traditional methods, indicating a trend toward clinical improvement. Further larger, prospective studies are needed to confirm the potential benefits of FMR on bladder safety and health.
NEUROUROLOGY AND URODYNAMICS
(2021)
Article
Pediatrics
Hannah Agard Bachtel, S. Hamza Hussaini, Paul F. Austin, Nicolette K. Janzen, Alex Chau, Amir Pezeshkmehr, N. Thao Nguyen Galvan, Eileen D. Brewer, Sarah Swartz, J. Alberto Hernandez, Greg Gardner, Ronald T. Cotton, Christine A. O'Mahony, Chester J. Koh, Kamlesh U. Kukreja
Summary: This study retrospectively reviewed all pediatric kidney transplantation patients who underwent percutaneous antegrade ureteroplasty for the treatment of ureteral stricture at our institution from July 2009 to July 2021. The results showed that percutaneous antegrade ureteroplasty can be an effective treatment option for pediatric patients with early (<6 months) ureteral obstruction following kidney transplantation.
JOURNAL OF PEDIATRIC UROLOGY
(2023)
Article
Urology & Nephrology
Dong-Gi Lee, Jonathan Gerber, Vinaya Bhatia, Nicolette Janzen, Paul F. Austin, Chester J. Koh, Sang Hoon Song
Summary: The study assessed the performance of a mobile acoustic Uroflowmetry application compared with standard Uroflowmetry in pediatric population. Strong correlations were found between the two methods for maximum flow rate, voiding time, and voiding volume, but not for average flow rate. The results showed that acoustic Uroflowmetry was comparable to standard Uroflowmetry for male pediatric patients.
INTERNATIONAL NEUROUROLOGY JOURNAL
(2021)
Article
Endocrinology & Metabolism
Bonnie McCann-Crosby, Laurel Hyle, David Mann, Sheila Gunn, Katherine Flynn, Jennifer Bercaw-Pratt, Oluyemisi Adeyemi, Jennifer Dietrich, Duong Tu, Paul F. Austin, Reid Sutton, Marni Axelrad, Lefkothea Karaviti
PEDIATRIC ENDOCRINOLOGY REVIEWS PER
(2019)
Article
Psychology, Clinical
Alexandria M. Delozier, Kaitlyn L. Gamwell, Christina Sharkey, Dana M. Bakula, Megan N. Perez, Cortney Wolfe-Christensen, Paul Austin, Laurence Baskin, Kerlly J. Bernabe, Yee-Ming Chan, Earl Y. Cheng, David A. Diamond, Rebecca E. H. Ellens, Allyson Fried, Denise Galan, Saul Greenfield, Thomas Kolon, Bradley Kropp, Yegappan Lakshmanan, Sabrina Meyer, Theresa Meyer, Natalie J. Nokoff, Kristy J. Reyes, Blake Palmer, Dix P. Poppas, Alethea Paradis, Amy C. Tishelman, Elizabeth B. Yerkes, John M. Chaney, Amy B. Wisniewski, Larry L. Mullins
ARCHIVES OF SEXUAL BEHAVIOR
(2019)
Article
Endocrinology & Metabolism
Courtney Finlayson, Ilina Rosoklija, Christopher E. Aston, Paul Austin, Dana Bakula, Laurence Baskin, Yee-Ming Chan, Alexandria M. Delozier, David A. Diamond, Allyson Fried, Saul Greenfield, Thomas Kolon, Bradley Kropp, Yegappan Lakshmanan, Sabrina Meyer, Theresa Meyer, Natalie Nokoff, Larry L. Mullins, Blake Palmer, Megan N. Perez, Dix P. Poppas, Pramod Reddy, Kristy J. Scott Reyes, Marion Schulte, Christina M. Sharkey, Elizabeth Yerkes, Cortney Wolfe-Christensen, Amy B. Wisniewski, Earl Y. Cheng
JOURNAL OF THE ENDOCRINE SOCIETY
(2019)