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Immune adaptation plays an essential role in determining pregnancy, which has been shown to be dependent on sufficient immunological tolerance mediated by FOXP3+ regulatory T cells. Recently, an X-linked maternal single-nucleotide polymorphism (SNP), located 2175 base pairs upstream of the start codon in the bovine FOXP3 gene (NC_037357.1: g.87298881A>G, rs135720414), was identified in Japanese Black (JB: Bos taurus) cows in association with recurrent infertility. However, with the exception of JB cows, the frequency of this SNP has yet to be studied in other cow populations. In this study, we thus aimed to evaluate the frequency of this SNP in different cow breeds. Between 2018 and 2021, a total of 809 DNA samples were obtained from 581 JB, 73 Holstein Friesian (HF: B. taurus), 125 Korean Hanwoo (KH: B. taurus coreanae), and 30 Indonesian Madura (IM: a crossbreed between B. indicus and B. javanicus) cows, which were genotyped using a TaqMan probe-based real-time polymerase chain reaction assay designed in this study. The frequency of the G allele was found to be relatively high in local IM (0.700), moderate in dairy HF (0.466), and low in beef JB (0.250) and KH (0.112) cows, with differences in the frequencies between each group being shown to be statistically significant (p < 0.005) using Fisher’s exact test. The results obtained in this study indicate that the G allele frequencies of the identified the SNP differ markedly in different breeds of taurine and indicine cattle. Given these findings, it would thus be important to evaluate the relationships between high frequencies of the G allele and infertility in different breeds.
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http://dx.doi.org/10.3390/ani12081044 | DOI Listing |
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View Article and Find Full Text PDFZhonghua Nei Ke Za Zhi
September 2025
Department of Endocrinology, the First Medical Center of Chinese PLA General Hospital, Beijing 100039, China.
Clinical data of two patients with X-linked adrenoleukodystrophy (X-ALD) initially presenting as Addison's disease were collected from the Department of Endocrinology, First Medical Center of Chinese PLA General Hospital. Relevant medical history, clinical features, laboratory tests, and genetic results were analyzed. The two male patients, aged 7 years (case 1) and 15 years (case 2), initially presented with generalized skin hyperpigmentation, without any family history of similar disorders.
View Article and Find Full Text PDFNeurotherapeutics
September 2025
Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy. Electronic address:
CDKL5 Deficiency Disorder (CDD) is a severe neurodevelopmental disorder caused by mutations in the X-linked CDKL5 gene, resulting in early-onset seizures, developmental delays, and cognitive and sensorimotor impairments. While emerging therapies show promise, substantial challenges remain in developing a cure for CDD. In our prior work, we developed an innovative gene therapy strategy based on an Igk-TATk-CDKL5 fusion protein, which enhances brain distribution of the therapeutic protein, significantly improving treatment efficacy in a Cdkl5 knockout male mouse model.
View Article and Find Full Text PDFJ Cutan Pathol
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Dermatology, South Infirmary Victoria University Hospital, Cork, Ireland.