Normal male chromosome complement and a lack of the SRY and SOX9 gene mutations in a male pseudohermaphrodite dog

Nowacka‐Woszuk, Joanna; Niżański, Wojciech; Klimowicz, Maria; Świtoński, M.

doi:10.1016/j.anireprosci.2006.04.051

Cited by 20 publications

(8 citation statements)

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“…In contrast, surprisingly few and exclusively SRY ‐positive ‘masculine’‐type XY females have been reported for other species, such as river buffalo (Di Meo et al. 2008), dog (Nowacka‐Woszuk et al. 2007; Whyte et al.…”

Section: Discussionmentioning

confidence: 96%

Molecular heterogeneity of XY sex reversal in horses

et al. 2010

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SummaryMale-to-female 64,XY sex reversal is a frequently reported chromosome abnormality in horses. Despite this, the molecular causes of the condition are as yet poorly understood. This is partially because only limited molecular information is available for the horse Y chromosome (ECAY). Here, we used the recently developed ECAY map and carried out the first comprehensive study of the Y chromosome in XY mares (n = 18). The integrity of the ECAY in XY females was studied by FISH and PCR using markers evenly distributed along the euchromatic region. The results showed that the XY sex reversal condition in horses has two molecularly distinct forms: (i) a Y-linked form that is characterized by Y chromosome deletions and (ii) a non-Y-linked form where the Y chromosome of affected females is molecularly the same as in normal males. Further analysis of the Y-linked form (13 cases) showed that the condition is molecularly heterogeneous: the smallest deletions spanned about 21 kb, while the largest involved the entire euchromatic region. Regardless of the size, all deletions included the SRY gene. We show that the deletions were likely caused by inter-chromatid recombination events between repeated sequences in ECAY. Further, we hypothesize that the occurrence of SRY-negative XY females in some species (horse, human) but not in others (pig, dog) is because of differences in the organization of the Y chromosome. Finally, in contrast to the Y-linked SRY-negative form of equine XY sex reversal, the molecular causes of SRY-positive XY mares (5 cases) remain as yet undefined.

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Section: Discussionmentioning

confidence: 96%

Molecular heterogeneity of XY sex reversal in horses

et al. 2010

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“…The primer pair was used according to the previous report [6] as follows: Forward: 5'-CTC GCG ATC AAA GGC GCA AGA T-3', Reverse: 5'-TCC GGC TTC TGT AAG CAT TTT C-3'. Polymerase chain reaction (PCR) was performed on 25 l of a mixture containing 1 g of template genomic DNA, 10 pmol of each primer, 200 M deoxynucleoside triphosphate (dNTP), and 1.25 units Taq DNA polymerase (TaKaRa, Shiga, Japan).…”

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confidence: 99%

A Case of Persistent Muellerian Duct Syndrome with Sertoli Cell Tumor and Hydrometra in a dog

Matsuu

Hashizume

Kanda

et al. 2009

The Journal of Veterinary Medical Science

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ABSTRACT. A 10-year-old Miniature Schnauzer with bilateral cryptorchidism and male external genitalia was referred with a history of abdominal enlargement. Upon exploratory laparotomy, two tumors and a connecting structure similar to fluid-filled uterus were recognized. After cytological and bacterial examinations of the fluid and histological examination, this dog was diagnosed with bilateral Sertoli cell tumor with hydrometra. The karyotype of this dog was 78, XY and the sry gene was detected positive by PCR. We diagnosed this dog as a case of persistent Müllerian duct syndrome (PMDS), which is male pseudohermaphroditism. This is the first report regarding the incidence of PMDS in Miniature Schnauzers in Japan, and it suggests the involvement of a gene carrier. A 10-year-old male Miniature Schnauzer was referred to Tottori University Animal Teaching Hospital with a history of abdominal enlargement. Physical examination revealed bilateral cryptorchidism with male external genitalia and non-pruritic dorsal lumbar alopecia. On palpation, a large mass was felt in the abdomen. The general condition seemed to be normal, and visible feminization was not recognized.Full CBC and serum biochemistry tests were performed. Slight elevations were observed in the levels of alanine amino transferase (182 U/l), alkaline phosphatase (1,363 U/ l), and total cholesterol (259 mg/dl). The concentrations of serum estradiol and testosterone were 103 pg/ml (reference range of normal male: < 15 pg/ml) and 246 ng/dl (reference range of normal male: 100-300 ng/dl), respectively. Abdominal radiographs detected large masses compressing the normal intestinal canal. Abdominal ultrasonography revealed two masses with mixed echogenecity. Additionally, hypoechogenecity tubular cysts cranial to the bladder were observed, which appeared to be fluid-filled like pyometra or hydrometra.Although the tubular cysts were unidentifiable, the abovementioned findings suggested the possibility of testicular tumors; thus, exploratory laparotomy was performed to explore the possibility of resecting the masses and cysts. A large and a small mass, which were speculated to represent the testicles, were located at the center of the abdomen and attached to the structure like the uterus which was inflated with fluid material. This uterus-like structure had two horns that caudally joined into the body of the uterus, the vagina terminated cranially into the prostate gland. Due to the growing mass, obvious structures like the fallopian duct or the testicular canal were not recognized. After the vagina was ligated, both the tumor and the uterus were extracted (Fig 1). Cytodiagnosis revealed intact erythrocyte and keratinizing epitheliums without pathogenic microorganisms. To identify the presence of aerobic bacteria, culture was performed and any multiplication of bacteria were not observed. The walls of both the uterine horns were thin. Histological examination confirmed bilateral Sertoli cell tumor and normal uterus; no ovarian tissue was found. The postoperative gen...

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“…Similarly to previous cases, no molecular analysis of candidate genes was performed. Another case of male pseudohermaphroditism was described in a phenotypically female (Dachshund) with an enlarged clitoris (Nowacka-Woszuk et al, 2007). This intersex presented male behaviour and clinical examination revealed the presence of abdominal gonads resembling testes.…”

Section: Discussionmentioning

confidence: 99%

Comparative cytogenetic mapping of three genes involved in sex determination in four species of the family <i>Canidae</i>

Nowacka‐Woszuk¹,

Świtoński²

2010

J. Anim. Feed Sci.

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Advanced knowledge of the canine genome facilitates progress in studies on genome maps of other canids, including species considered also as farm animals. In this study canine BAC (Bacterial Artificial Chromosome) probes, harbouring three genes involved in sex determination (SOX9 -sex determining region Y-box 9, AMH -anti-Müllerian hormone and AR -androgen receptor), were mapped in the dog, red fox, arctic fox and Chinese raccoon dog chromosomes. Localization of these genes can be helpful in association studies focused on monogenetic intersexual disorders.

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Normal male chromosome complement and a lack of the SRY and SOX9 gene mutations in a male pseudohermaphrodite dog

Cited by 20 publications

References 9 publications

Molecular heterogeneity of XY sex reversal in horses

Molecular heterogeneity of XY sex reversal in horses

A Case of Persistent Muellerian Duct Syndrome with Sertoli Cell Tumor and Hydrometra in a dog

Comparative cytogenetic mapping of three genes involved in sex determination in four species of the family <i>Canidae</i>

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