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Adriane Watkins Sinclair, Stephen Glickman, Kenneth Catania, Akio Shinohara, Lawrence Baskin, Gerald R Cunha
The penile and clitoral anatomy of four species of Talpid moles (broad-footed, star-nosed, hairy-tailed, and Japanese shrew moles) were investigated to define penile and clitoral anatomy and to examine the relationship of the clitoral anatomy with the presence or absence of ovotestes. The ovotestis contains ovarian tissue and glandular tissue resembling fetal testicular tissue and can produce androgens. The ovotestis is present in star-nosed and hairy-tailed moles, but not in broad-footed and Japanese shrew moles...
May 2017: Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution
J Nowacka-Woszuk, I Szczerbal, H Pausch, S Hundi, M K Hytönen, A Grzemski, K Flisikowski, H Lohi, M Switonski, M Szydlowski
A disorder of sex development (DSD) in dogs with female sex chromosomes (78, XX), a lack of the SRY gene and the presence of testes or ovotestes is commonly diagnosed in numerous breeds. The molecular background of DSD is not fully recognized but has been linked to the copy number variation in the region harboring the SOX9 gene. We applied a genome-wide association study and targeted next-generation sequencing techniques to compare DSD and normal female dogs. The genome-wide association study did not indicate a significant chromosome region...
June 2017: Animal Genetics
Nitzan Gonen, Alexander Quinn, Helen C O'Neill, Peter Koopman, Robin Lovell-Badge
During mouse sex determination, transient expression of the Y-linked gene Sry up-regulates its direct target gene Sox9, via a 3.2 kb testis specific enhancer of Sox9 (TES), which includes a core 1.4 kb element, TESCO. SOX9 activity leads to differentiation of Sertoli cells, rather than granulosa cells from the bipotential supporting cell precursor lineage. Here, we present functional analysis of TES/TESCO, using CRISPR/Cas9 genome editing in mice. Deletion of TESCO or TES reduced Sox9 expression levels in XY fetal gonads to 60 or 45% respectively relative to wild type gonads, and reduced expression of the SOX9 target Amh...
January 2017: PLoS Genetics
Adriane A Braga, Erika T Nunes, Laura S López-Grecco, Maria Izabel Camargo-Mathias, Vivian Fransozo
This study analyzes the dynamics of the vitellogenesis process in the simultaneous protandric hermaphrodite shrimp Exhippolysmata oplophoroides, based on light microscopic observations. The ovotestes of the shrimps at the different gonadal development stages were removed, fixed and submitted an usual histological procedure (HE) and histochemical techniques (Bromophenol Blue, PAS/Alcian Blue, and Von Kossa tests). The germinative cells were classified into oogonias, and oocytes in stages I-IV based on the following features: cell size, cytoplasm appearance, presence of yolk granules, lipid droplets, chorion, and chromatin patterns...
September 2016: Micron: the International Research and Review Journal for Microscopy
José Luis Bortolini, Raymond T Bauer
The caridean shrimp Lysmata wurdemanni is a protandric simultaneous hermaphrodite. These individuals go through a male phase (MP) before changing sex to become female-phase simultaneous hermaphrodites (FPSH). The latter have an externally female phenotype, but retain a reduced male reproductive system and both male and female reproductive function. Previous studies have reported that the androgenic glands (AGs), whose hormones stimulate development of male characteristics in decapod crustaceans, are absent in the female phase of purely protandric species...
April 2016: Biological Bulletin
Enver Şimşek, Çiğdem Binay, Meliha Demiral, Baran Tokar, Sare Kabukçuoğlu, Melek Üstün
Ovotesticular disorder of sexual development (DSD), formerly known as true hermaphroditism, is a rare form of DSD in which both testicular and ovarian tissues are present in the same individual either in a single gonad (ovotestis) or in opposite gonads with a testis and an ovary on each side. The diagnosis of ovotesticular DSD is based solely on the presence of ovarian and testicular tissue in the gonad and not on the characteristics of the internal and external genitalia, even if ambiguous. Herein, we report two patients with ovotesticular DSD-one presenting with ambiguous genitalia on the third day after birth and the other with short stature and primary amenorrhea in adolescence...
September 1, 2016: Journal of Clinical Research in Pediatric Endocrinology
Dong-Neng Jiang, Hui-Hui Yang, Ming-Hui Li, Hong-Juan Shi, Xian-Bo Zhang, De-Shou Wang
Gonadal soma-derived factor (gsdf) is critical for testicular differentiation in teleosts, yet detailed analysis of Gsdf on testicular differentiation is lacking. In the present study, we knocked out tilapia gsdf using CRISPR/Cas9. F0 gsdf-deficient XY fish with high mutation rate (≥58%) developed as intersex, with ovotestes 90 days after hatching (dah), and become completely sex-reversed with ovaries at 180 and 240 dah. Those individuals with a low mutation rate (<58%) and XY gsdf(+/-) fish developed as males with normal testes...
June 2016: Molecular Reproduction and Development
Miku Kato, Chizue Hiruta, Shin Tochinai
The androgenic gland in malacostracan crustacean species produces and secretes androgenic gland hormone, which is responsible for male sexual differentiation, such as the induction and development of male sexual traits, and in turn the suppression of female sexual traits. Marmorkrebs, Procambarus fallax forma virginalis, which was identified as the first parthenogenetic species in decapod crustaceans, produces only female offspring. In this study, in order to reveal whether the Marmorkrebs crayfish is sensitive to androgenic gland hormone, we transplanted an androgenic gland from a related congener, P...
October 2015: Zoological Science
José F Pérez-Gutiérrez, Luís V Monteagudo, Antonio Rodríguez-Bertos, Enrique García-Pérez, María J Sánchez-Calabuig, Concepción García-Botey, Ana Whyte, Mercedes Sánchez de la Muela
This report describes a disorder of the sexual development in a beagle dog resulting in an intersex condition. A 6 mo old beagle was presented for evaluation of a protruding structure from the vulva consistent with an enlarged clitoris. Ultrasonographic examination revealed the presence of both gonadal and uterine structures. Retrograde cystourethrovaginogram showed the presence of an os clitoris and severe vaginal stenosis. Histological studies revealed the presence of bilateral ovotestes and uterus. The gonad had interstitial cells within seminiferous-like tubules lined only with Sertoli cells and abundant interstitial cells among primordial, primary, and secondary follicles...
July 2015: Journal of the American Animal Hospital Association
Bharati S Khodnapur, Laxmi S Inamdar, Robertraj S Nindi, Shivkumar A Math, B G Mulimani, Sanjeev R Inamdar
PURPOSE: To examine the impact of ultraviolet (UV) laser radiation on the embryos of Calotes versicolor in terms of its effects on the protein profile of the adrenal-kidney-gonadal complex (AKG), sex determination and differentiation, embryonic development and hatching synchrony. MATERIALS AND METHODS: The eggs of C. versicolor, during thermo-sensitive period (TSP), were exposed to third harmonic laser pulses at 355 nm from a Q-switched Nd:YAG laser for 180 sec...
February 2015: International Journal of Radiation Biology
Sandra Langer, Kerstin Ternes, Dimitri Widmer, Frank Mutschmann
To the authors knowledge this is the first case of intersexuality in an African dwarf crocodile (Osteolaemus tetraspis). An adult African dwarf crocodile with a male-typical phenotype lived at Zoo Duisburg in Germany for 10 years. It died in October 2012 despite intensive treatment as a result of terminal septicemia. After a detailed pathological examination the gonads were histologically confirmed as ovotestes. Half of the 22 extant species of crocodilians have been examined for occurrence of temperature dependent sex determination (TSD)...
September 2014: Zoo Biology
Sylwia Salamon, Joanna Nowacka-Woszuk, Izabela Szczerbal, Stanisław Dzimira, Wojciech Nizanski, Malgorzata Ochota, Marek Switonski
A disorder of sexual development (DSD) of dogs with a female karyotype, missing SRY gene, and presence of testicles or ovotestes is quite commonly diagnosed. It is suggested that this disorder is caused by an autosomal recessive mutation; however, other models of inheritance have not been definitely ruled out. In an earlier study it was hypothesized that the mutation may reside in a pericentromeric region of canine chromosome 23 (CFA23). Three positional candidate genes (CLASP2, UBP1, and FBXL2) were selected in silico in the search for polymorphisms in 7 testicular or ovotesticular XX DSD dogs, 8 XX DSD dogs of unknown cause (SRY-negative, with enlarged clitoris and unknown histology of gonads), and 29 normal female dogs as a control group...
2014: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
Jun Fujii, Maho Kodama, Akira Oike, Yasuki Matsuo, Mi-Sook Min, Takashi Hasebe, Atsuko Ishizuya-Oka, Koichi Kawakami, Masahisa Nakamura
In mice and humans, the androgen receptor (AR) gene, located on the X chromosome, is not known to be involved in sex determination. In the Japanese frog Rana rugosa the AR is located on the sex chromosomes (X, Y, Z and W). Phylogenetic analysis shows that the AR on the X chromosome (X-AR) of the Korean R. rugosa is basal and segregates into two clusters: one containing W-AR of Japanese R. rugosa, the other containing Y-AR. AR expression is twice as high in ZZ (male) compared to ZW (female) embryos in which the W-AR is barely expressed...
2014: PloS One
Nick Warr, Pam Siggers, Gwenn-Aël Carré, Debora Bogani, Rachel Brixey, Mika Akiyoshi, Makoto Tachibana, Lydia Teboul, Sara Wells, Jeremy Sanderson, Andy Greenfield
Disorders of sex development in the human population range in severity from mild genital defects to gonadal sex reversal. XY female development has been associated with heterozygous mutations in several genes, including SOX9, WT1 and MAP3K1. In contrast, XY sex reversal in mice usually requires complete absence of testis-determining gene products. One exception to this involves T-associated sex reversal (Tas), a phenomenon characterized by the formation of ovotestes or ovaries in XY mice hemizygous for the hairpin-tail (T(hp)) or T-Orleans (T(Orl)) deletions on proximal mouse chromosome 17...
June 1, 2014: Human Molecular Genetics
Rajini Sreenivasan, Junhui Jiang, Xingang Wang, Richárd Bártfai, Hsiao Yuen Kwan, Alan Christoffels, László Orbán
Zebrafish males undergo a "juvenile ovary-to-testis" gonadal transformation process. Several genes, including nuclear receptor subfamily 5, group A (nr5a) and anti-Müllerian hormone (amh), and pathways such as Tp53-mediated germ-cell apoptosis have been implicated in zebrafish testis formation. However, our knowledge of the regulation of this complex process is incomplete, and much remains to be investigated about the molecular pathways and network of genes that control it. Using a microarray-based analysis of transforming zebrafish male gonads, we demonstrated that their transcriptomes undergo transition from an ovary-like pattern to an ovotestis to a testis-like profile...
February 2014: Biology of Reproduction
Yen-Shan Chen, Joseph D Racca, Nelson B Phillips, Michael A Weiss
Human testis determination is initiated by SRY (sex determining region on Y chromosome). Mutations in SRY cause gonadal dysgenesis with female somatic phenotype. Two subtle variants (V60L and I90M in the high-mobility group box) define inherited alleles shared by an XY sterile daughter and fertile father. Whereas specific DNA binding and bending are unaffected in a rat embryonic pre-Sertoli cell line, the variants exhibited selective defects in nucleocytoplasmic shuttling due to impaired nuclear import (V60L; mediated by Exportin-4) or export (I90M; mediated by chromosome region maintenance 1)...
September 17, 2013: Proceedings of the National Academy of Sciences of the United States of America
David Crews
When considering sex ratios, we have to first define the nature of the question. Are we referring to the gonads, secondary and accessory sex structures, physiology, brain, behavior, or to all of the above elements. If these elements are not concordant, the exceptions can prove illustrative of underlying processes at both the proximate and ultimate levels. At each of these levels, "sex" is the binary outcome resulting from the modulation of conserved networks of genes, proteins, cells, organs, and, in the case of the brain, discrete nuclei...
December 2013: Integrative and Comparative Biology
Dong-Soo Lee, Ji Hye Lee, Jie Yeun Park, Seung Jun Lee, Keun Jung Kim, Eun Young Kim, Hwa-Young Son, Sea Hwan Sohn, Jae Suk Woo, Min Kyu Kim
True hermaphrodites are animals of equivocal sex in which both male and female gonads develop simultaneously in the same individual. The frequency of true hermaphroditism is relatively higher in pigs than in other domestic animals. Two Korean pigs were diagnosed with true hermaphroditism showing ovotestes, epididymides, a penis and uteri. The testicular tissues consisted of Sertoli cells that were devoid of spermatogenic cells and showed proliferation of interstitial cells. However, uteri looked normal and had well-developed endometrial glands...
February 2013: Journal of Veterinary Medical Science
Nelly Margarita Macías-Gómez, Evelia Leal-Ugarte, Melva Gutiérrez-Angulo, Guadalupe Domínguez-Quezada, Horacio Rivera, Patricio Barros-Núñez
INTRODUCTION: Beckwith-Wiedemann syndrome is an overgrowth syndrome that is characterized by hypoglycemia at birth, coarse face, hemihypertrophy and an increased risk to develop embryonal tumors. In approximately 15% of patients, the inheritance is autosomal dominant with variable expressivity and incomplete penetrance, whereas the remainder of Beckwith-Wiedemann syndrome cases are sporadic. Beckwith-Wiedemann syndrome molecular etiologies are complex and involve the two imprinting centers 1 (IC1) and 2 (IC2) of 11p15 region...
September 13, 2012: Journal of Medical Case Reports
Jung Taek Kang, Hyung Jin Kim, Hyun Ju Oh, So Gun Hong, Jung Eun Park, Min Jung Kim, Min Kyu Kim, Goo Jang, Dae Yong Kim, Byeong Chun Lee
Recently, we reported the three wolves cloning with normal karyotype from somatic cells of endangered male gray wolves (Canis lupus), but one wolf had female external genitalia. In this study, we conducted further clinical, histological, and genetic analyses. This cloned wolf had a normal uterus but developed ovotestis. Through molecular analysis of the SRY gene, a mutation in the coding sequence of SRY gene could be excluded as a cause of intersexuality. This is the first report of a cloned wolf with a 78, XY ovotesticular disorder affecting sexual development characterized by bilateral ovotestes...
June 2012: Journal of Veterinary Science
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