Chromosome abnormalities in dogs with disorders of sex development (DSD)

Szczerbal, Izabela; Niżański, Wojciech; Dzimira, Stanisław; Nowacka‐Woszuk, Joanna; Stachecka, Joanna; Bieżyński, Janusz; Ligocka, Zuzanna; Jagodka, Dariusz; Fabian-Kurzok, Hanna; Świtoński, M.

doi:10.1016/j.anireprosci.2021.106771

Cited by 5 publications

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References 26 publications

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“…By contrast, our knowledge of the sex chromosome abnormalities responsible for canine DSD is quite advanced (Szczerbal et al . 2021).…”

Section: Species/dog Breed Copy Number In Dsd Dogs (N; %) Copy Number...mentioning

confidence: 99%

“…Only three causative gene mutations are known in: (1) AMHR2, as identified in dogs with persistent M€ ullerian duct syndrome (Wu et al 2009); (2) HSD17B3, which causes underdevelopment of the male external genitalia (Krzeminska et al 2019); and (3) NR5A1, as seen in dogs with abnormal penile development associated with cryptorchidism (Nowacka-Woszuk et al 2020). By contrast, our knowledge of the sex chromosome abnormalities responsible for canine DSD is quite advanced (Szczerbal et al 2021).…”

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confidence: 99%

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Copy number variation of the SRY gene showed an association with disorders of sex development in Yorkshire Terrier dogs

2021

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The molecular background of disorders of sex development (DSD) in dogs is poorly understood. Several copies of the SRY genes have been reported in the dog genome. We used droplet digital PCR with the aim of determining variability in SRY copy number and its association with DSD in dogs. Altogether 19 DSD male dogs (XY DSD) of 10 breeds and 87 control dogs of eight breeds were analyzed. Moreover, we performed a comparative analysis of SRY copy number in other canids: wolves (3), red foxes ( 16), and Chinese raccoon dogs (10). We found that the modal number of SRY copies in dogs, wolves, red foxes, and Chinese raccoon dogs was 3, 3, 1, and 3 respectively. Variability of copy number was only observed in Yorkshire Terriers (two or three copies) and red foxes (one or two copies). An analysis of six DSD Yorkshire Terriers and 38 control males of this breed showed that 50% of the DSD dogs had two copies, while the incidence of this variant was significantly lower in the control dogs (10.5%). Searching for the copy number of the coding and 5 0 -flanking fragments revealed full concordance with the copy number. These fragments were also sequenced in DSD ( 19) and control (24) dogs, and no DNA variants were found. We conclude that, in the dog, two or three functional copies of the SRY gene are present, and a smaller number of copies showed an association with the risk of DSD phenotype in Yorkshire Terriers.

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“…By contrast, our knowledge of the sex chromosome abnormalities responsible for canine DSD is quite advanced (Szczerbal et al . 2021).…”

Section: Species/dog Breed Copy Number In Dsd Dogs (N; %) Copy Number...mentioning

confidence: 99%

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confidence: 99%

Copy number variation of the SRY gene showed an association with disorders of sex development in Yorkshire Terrier dogs

2021

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Identification of aneuploidy in dogs screened by a SNP microarray

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Świtoński

et al. 2021

Hum Genet

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Microarray analysis is an e cient approach for screening and identifying cytogenetic imbalances in humans. SNP arrays, in particular, are a powerful way to identify copy number gains and losses representing aneuploidy and aneusomy, but moreover, allow for the direct assessment of individual genotypes in known disease loci. Using these approaches, trisomies, monosomies and mosaicism of whole chromosomes have been identi ed in human microarray studies. For canines, this approach is not widely used in clinical laboratory diagnostic practice. In our laboratory, we have implemented the use of a propriety SNP array that represents approximately 650,000 loci across the domestic dog genome. During the validation of this microarray prior to clinical use, we identi ed three cases of aneuploidy after screening 2,053 dogs of various breeds including monosomy X, trisomy X and an apparent, mosaic trisomy of canine chromosome 38 (CFA 38). This study represents the rst use of microarrays for copy number evaluation to identify cytogenetic anomalies in canines. As microarray analysis becomes more routine in canine genetic testing, more cases of chromosome aneuploidy are likely to be uncovered.

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