Sex identification of dog by <scp>PCR</scp> based on the differences in the <i><scp>AMELX</scp></i> and <i><scp>AMELY</scp></i> genes

Yan, Shouqing; Bai, Chen; Li, Yumei; Liu, Ying; Hou, J. N.; Zhao, Zhihui; Wang, Han

doi:10.1111/age.12063

Cited by 13 publications

(9 citation statements)

References 6 publications

(5 reference statements)

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“…For this analysis, the AMEL gene was used as an additional control. This gene, in fact, is located on both sex chromosomes (X and Y) but shows a different length and for this reason is used for sexing and to check the presence Y chromosome [ 26 ]. Dog represents an excellent animal model in that the same phenotype (generally attributable to the presence of testicular tissue in the presence of a XX karyotype and absence of the SRY gene) is present, but very rare, in humans.…”

Section: Discussionmentioning

confidence: 99%

“…DNA was extracted from whole blood with Wizard ® Genomic DNA purification kit (Promega). To verify the presence/absence of SRY gene, the coding region was amplified in all for cases as well as AMELX/Y region that was used as control [ 26 , 27 ] Finally, in all 4 subjects, the entire coding region of the RSPO1 gene was amplified and sequenced as reported in De Lorenzi et al [ 26 ]. The primer sequences are reported in Table 1 .…”

Section: Methodsmentioning

confidence: 99%

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Analysis of XX SRY-Negative Sex Reversal Dogs

Albarella

Lorenzi

Rossi

et al. 2020

Animals

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Impaired fertility associated with disorders of sex development (DSDs) due to genetic causes in dogs are more and more frequently reported. Affected dogs are usually of specific breeds thus representing a cause of economic losses for breeders. The aim of this research is to report the clinical, cytogenetic and molecular genetic findings of four XX SRY-negative DSD dog cases. All the subjects showed a female aspect and the presence of an enlarged clitoris with a penis bone. Morphopathological analyses performed in three of the four cases showed the presence of testes in two cases and ovotestis in another. Conventional and R-banded cytogenetic techniques were applied showing that no chromosome abnormalities were involved in these DSDs. CGH arrays show the presence of 11 copy number variations (CNVs), one of which is a duplication of 458 Kb comprising the genomic region between base 17,503,928 and base 17,962,221 of chromosome 9 (CanFam3 genome assembly). This CNV, confirmed also by qPCR, includes the promoter region of SOX9 gene and could explain the observed phenotype.

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Analysis of XX SRY-Negative Sex Reversal Dogs

Albarella

Lorenzi

Rossi

et al. 2020

Animals

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“…The cells were stained with Giemsa stain and metaphases analysed under microscope. Additionally, karyotype results were also confirmed via polymerase chain reaction (PCR) based on the differences in the amelogenin ( AMEL ) gene, located on both X and Y chromosomes of mammals, as previously described [17]. Briefly, genomic DNA was extracted from the peripheral blood of the dog (Citogene® DNA Blood KIT), according to manufacturer’s instructions.…”

Section: Case Presentationmentioning

confidence: 99%

Canine ovarian gonadoblastoma with dysgerminoma overgrowth: a case study and literature review

et al. 2019

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Background Gonadoblastoma (GB) is a rare mixed germ cell-sex cord-stromal tumour, first described in humans, commonly found in dysgenetic gonads of intersex patients that have a Y chromosome. However, this entity in not recognized in the WHO classification of tumours of genital system of domestic animals. Herein, we describe a case of ovarian gonadoblastoma with proliferation of dysgerminoma and sex cord-stromal tumour components, in a phenotypically and cytogenetically normal bitch. Case presentation A 17-year-old cross-breed bitch had a firm, grey-white multinodular mass in the left ovary. The tumour was submitted to histopathological examination and Y chromosome detected through karyotype analysis and PCR studies. Microscopically, the ovary was almost replaced by an irregular neoplasm composed of three distinct, intermixed elements: dysgerminoma, mixed germ cell-sex cord-stromal tumour resembling human GB and a proliferative sex cord-stromal tumour component. The germ cells of gonadoblastoma and dysgerminoma components were immunoreactive for c-KIT. Sex cord-stromal cells of gonadoblastoma were immunoreactive for α-inhibin. The sex cord-stromal tumour was immunoreactive for AE1/AE3, occasionally for α-inhibin and negative for epithelial membrane antigen (EMA). The karyotype was 78, XX and PCR analysis confirmed the absence of the Y chromosome. Conclusion Based on these findings, a diagnosis of gonadoblastoma with proliferation of dysgerminoma and sex cord-stromal tumour was made. This is the first case of ovarian gonadoblastoma in a female dog.

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“…In addition, alternative splicing has also been identified as a mechanism for generation of heterogeneous amelogenin products; all proteins derived from alternatively spliced transcripts have homologous 5' and 3' sequences within the coding regions (Gibson et al, 1992;Lau et al, 1992;Salido et al, 1992;Simmer et al, 1994;Li et al, 1995). The canine AMEL gene has been found to be located on both X and Y chromosomes (Yan et al, 2013). To date, only partial cDNA sequences from canine AMEL have been obtained (Yuasa et al, 1998;Haze et al, 2007).…”

Section: Introductionmentioning

confidence: 99%

Identification of cDNA sequences and alternative splicing patterns of canine AMEL genes (AMELX and AMELY)

Yan

Bai

et al. 2015

Genet. Mol. Res.

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ABSTRACT. Amelogenin is a major protein of the developing enamel matrix. There are two amelogenin genes (AMELX and AMELY) located on the X and Y chromosomes, respectively, in dogs. In the present study, we characterized full-length cDNAs and alternative splicing patterns of the AMEL genes in the tooth tissue of a dog by 5'-and 3'-rapid amplification of cDNA ends and AMEL-specific RT-PCR. Sequence analysis revealed that the coding regions of AMELX and AMELY were 579 and 576 bp (accession Nos. KP244310 and KP244311), respectively. The coding sequence of AMELX had 95.1% identity to that of AMELY. The AMEL genes on X and Y chromosomes were both expressed in developing tooth tissue. Eight different alternatively spliced transcripts were identified, five from AMELX and three from AMELY.

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Sex identification of dog by PCR based on the differences in the AMELX and AMELY genes

Abstract: Additional supporting information may be found in the online version of this article. Figure S1 The white spotting phenotype in a Weimaraner puppy at 6 [A, B] and 7 weeks of age [C] as compared to the littermates [D].

Cited by 13 publications

References 6 publications

Analysis of XX SRY-Negative Sex Reversal Dogs

Analysis of XX SRY-Negative Sex Reversal Dogs

Canine ovarian gonadoblastoma with dysgerminoma overgrowth: a case study and literature review

Identification of cDNA sequences and alternative splicing patterns of canine AMEL genes (AMELX and AMELY)

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