Several groups of hypoploids were characterized in pentaploid (p) progenies of B. napus and O. violaceus. Cytological characterization of the P3 population revealed allosubstitution of one pair of B. napus chromosomes with O. violaceus chromosomes. This population had normal fertility and had three kinds of somatic cells with 36-38 chromosomes. Its somatic cells and pollen mother cells (PMC) mainly had 38 chromosomes. From a P4 population, three monosomic plants with 37 chromosomes were identified with differing morphology and fertility. One plant which grew vigorously was composed of various types of somatic cell and PMC, in which the cells with 37 chromosomes were observed mainly. The unpaired chromosome was small and with no negative effects on plant development. In the offsprings of the aneuploids (P3) with 41-44 chromosomes, there are four types of plants with 29-32 chromosomes. Except the plant with 29 chromosomes, others which appeared abnormal meiosis behavior and poor pollen fertility are mixoploid. The origin of these hypoploids and their prospects of application have been discussed.
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Hereditas
January 2025
Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.
Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
View Article and Find Full Text PDFPediatr Res
January 2025
Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Sci Rep
January 2025
MRC WIMM Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, OX3 9DS, UK.
Bulk ATAC-seq assays have been used to map and profile the chromatin accessibility of regulatory elements such as enhancers, promoters, and insulators. This has provided great insight into the regulation of gene expression in many cell types in a variety of organisms. To date, ATAC-seq has most often been used to provide an average evaluation of chromatin accessibility in populations of cells.
View Article and Find Full Text PDFResolving the molecular basis of a Mendelian condition remains challenging owing to the diverse mechanisms by which genetic variants cause disease. To address this, we developed a synchronized long-read genome, methylome, epigenome and transcriptome sequencing approach, which enables accurate single-nucleotide, insertion-deletion and structural variant calling and diploid de novo genome assembly. This permits the simultaneous elucidation of haplotype-resolved CpG methylation, chromatin accessibility and full-length transcript information in a single long-read sequencing run.
View Article and Find Full Text PDFCommun Biol
January 2025
Department of Physiology and Pharmacology, College of Veterinary Medicine, University of Georgia, Athens, GA, 30602, USA.
In mammalian oocytes, large-scale chromatin organization regulates transcription, nuclear architecture, and maintenance of chromosome stability in preparation for meiosis onset. Pre-ovulatory oocytes with distinct chromatin configurations exhibit profound differences in metabolic and transcriptional profiles that ultimately determine meiotic competence and developmental potential. Here, we developed a deep learning pipeline for the non-invasive prediction of chromatin structure and developmental potential in live mouse oocytes.
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