Pachytene analysis was undertaken in an infertile male heterozygous for two pericentric inversions of chromosomes 1 and 9. The synaptic behaviour of the bivalent 1 inversion was the most informative. Analysis of the chromomere pattern combined with centromeric heterochromatin staining allowed precise description of synaptic initiation and extension leading to the homosynapsed loop. These techniques also allowed demonstration of the existence of heterosynapsis following alignment of the inverted segments. Non-homologous synapsed bivalents had the morphological aspects of straight bivalents with two distant blocks of centromeric heterochromatin. The numbering of the autosomal bivalent chromomeres at various successive phases of the inversion loop behaviour of bivalent 1 permitted us an alternative approach to the timing of pachytene.
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Endocrinol Diabetes Metab Case Rep
January 2025
Summary: Hypophosphatasia (HPP) is a genetic disorder due to pathological variants in ALPL, the gene encoding tissue-nonspecific alkaline phosphatase (ALP). HPP is typically associated with bone-related symptoms, such as bone deformity, fractures and bone pain in children, but can appear in adults with symptoms resembling arthritis. A 22-year-old male experienced repeated and severe sudden attacks of joint pain in the elbows and knees.
View Article and Find Full Text PDFUnlabelled: Autism Spectrum Disorder (ASD) is characterized by restricted and repetitive behaviors and social differences, both of which may manifest, in part, from underlying differences in corticostriatal circuits and reinforcement learning. Here, we investigated reinforcement learning in mice with mutations in either or , both high-confidence ASD risk genes associated with major syndromic forms of ASD. Using an odor-based two-alternative forced choice (2AFC) task, we tested adolescent mice of both sexes and found male and heterozygote (Het) mice showed enhanced learning performance compared to their wild type (WT) siblings.
View Article and Find Full Text PDFNat Commun
January 2025
Department of Otorhinolaryngology-Head and Neck Surgery, Osaka University Graduate School of Medicine, Suita, Japan.
Integration of human papillomavirus (HPV) into the host genome drives HPV-positive head and neck squamous cell carcinoma (HPV HNSCC). Whole-genome sequencing of 51 tumors revealed intratumor heterogeneity of HPV integration, with 44% of breakpoints subclonal, and a biased distribution of integration breakpoints across the HPV genome. Four HPV physical states were identified, with at least 49% of tumors progressing without integration.
View Article and Find Full Text PDFThe primary concern among adults with regard to their hearing is the difficulty in comprehending speech, particularly in noisy environments. The constant need to listen attentively leads to heightened frustration, fatigue and decreased concentration. According to research, high-frequency hearing loss could have negative implications on speech perception and make it even harder to communicate.
View Article and Find Full Text PDFCancer Genet
January 2025
Cincinnati Children's Hospital Medical Center, Division of Oncology, Cincinnati, OH, USA; University of Cincinnati College of Medicine, Cincinnati, OH, USA. Electronic address:
Introduction: POT1 tumor predisposition (POT1-TPD) is an autosomal dominant disorder characterized by increased lifetime malignancy risk. Melanoma, angiosarcoma, and chronic lymphocytic leukemia are the most frequently reported malignancies [1]. Protection of telomeres protein 1 (POT1) is part of the shelterin protein complex to maintain/protect telomeres [2].
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