DMRT1, which encodes a zinc finger-like DNA binding motif, is a well-conserved gene that is involved in testis differentiation in a variety of mammalian and non-mammalian vertebrates. The objective of this study was to determine whether a DMRT1 microsatellite marker allele is associated with the affected phenotype in a pedigree of canine SRY-negative XX sex reversal generated from an American Cocker spaniel founder. Ten affected dogs and their parents and grandparents were genotyped. Four alleles at this locus and five different genotypes were found in this pedigree. All affected dogs inherited this trait from the foundation sire of this colony. Thus, the disease-causing mutation should be identical by descent in all affected dogs. Six affected dogs were found to have genotypes at this locus that were different from those of the founder sire. These results indicate that DMRT1 is an unlikely candidate gene for SRY-negative XX sex reversal in this model.
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http://dx.doi.org/10.1016/j.tvjl.2004.12.013 | DOI Listing |
J Clin Endocrinol Metab
January 2025
Marmara University School of Medicine, Department of Pediatric Endocrinology, 34854, Istanbul, Turkey.
Context: Duplications occurring upstream of the SOX9 gene have been identified in a limited subset of patients with 46,XX testicular/ovotesticular differences/disorders of sex development (DSD). However, comprehensive understanding regarding their clinical presentation and diagnosis is limited.
Objective: To gain further insight into the diagnosis of a large cohort of 46,XX individuals with duplications upstream of SOX9.
Biol Sex Differ
September 2024
Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding, School of Life Science and Engineering, Foshan University, Foshan, 528255, P.R. China.
Anim Reprod Sci
November 2024
Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding, School of Life Science and Engineering, Foshan University, Foshan 528225, China. Electronic address:
Zhonghua Nan Ke Xue
February 2024
Center of Clinical Reproduction, Jiangsu Provincial Hospital / The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, China.
Objective: To investigate the genetic and clinical characteristics of 46, XX testicular disorders of sex development (DSD).
Methods: We collected the clinical data on the patients with 46,XX testicular DSD diagnosed in the Center of Reproductive Medicine of the First Affiliated Hospital of Nanjing Medical University from January 2017 to January 2023, and analyzed their genetic and clinical characteristics and the SRY gene chromosomal location for those with SRY-positive.
Results: A total of 26 patients were included in this study, all with 46,XX and deletion of the AZFa, b and c regions, with a mean height of (168.
Equine Vet J
July 2024
Department of Animal Molecular Biology, National Research Institute of Animal Production, Balice, Poland.
Background: Chromosomal abnormalities occur in the equine population at a rate of approximately 2%. The use of molecular cytogenetic techniques allows a more accurate identification of chromosomal abnormalities, especially those with a low rate of abnormal metaphases, demonstrating that the actual incidence in equine populations is higher.
Objectives: Estimation of the number of carriers of karyotypic abnormalities in a sample from a population of young horses of various breeds, using molecular cytogenetic techniques.
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