Descriptions are presented of four cases of attachment of chromosome material at the ends of normal chromosomes in Drosophila. Since no material appears to be missing from the polytene chromosomes and there are no ill effects to the organism in morphology, viability, or fertility when the chromosome is made homozygous, it is argued that the attachment occurred without the loss of any essential genetic material and that, in all probability, the break at the end of the chromosome occurred within the telomere of the chromosome. These cases may serve as a parallel to cases of apparent terminal breakage and reunion in certain rearrangements in man.
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Sci Adv
January 2025
Simpson Querrey Institute for Epigenetics, Department of Biochemistry and Molecular Genetics Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
The stability of RNA polymerase II (Pol II) is tightly regulated during transcriptional elongation for proper control of gene expression. Our recent studies revealed that promoter-proximal Pol II is destabilized via the ubiquitin E3 ligase cullin 3 (CUL3) upon loss of transcription elongation factor SPT5. Here, we investigate how CUL3 recognizes chromatin-bound Pol II as a substrate.
View Article and Find Full Text PDFPLoS One
January 2025
Henan Key Laboratory of Fertility Protection and Aristogenesis, Luohe Central Hospital, Luohe, Henan Province, People's Republic of China.
Purpose: To evaluate the clinical performance of expanded non-invasive prenatal testing (NIPT-plus) and compare its effectiveness in screening for chromosomal aneuploidies with that of NIPT.
Methods: Screening results, confirmatory invasive testing results, and follow-up data from pregnant women who underwent either NIPT (6792 cases) or NIPT-Plus (5237 cases) testing at Luohe Central Hospital, China, from January 2019 to June 2023 were collected. The positive predictive value (PPV), sensitivity, specificity, and other indicators for different types of chromosomal abnormalities in NIPT/NIPT-plus screening were calculated.
Gigascience
January 2025
Tropical Crops Genetic Resources Institute, Chinese Academy of Tropical Agricultural Sciences (CATAS), Haikou 571101, China.
Background: Drought is a major limiting factor for plant survival and crop productivity. Stylosanthes angustifolia, a pioneer plant, exhibits remarkable drought tolerance, yet the molecular mechanisms driving its drought resistance remain largely unexplored.
Results: We present a chromosome-scale reference genome of S.
Eur J Obstet Gynecol Reprod Biol
January 2025
Department of Obstetrics and Gynecology, Ministry of Health, Ankara Bilkent City Hospital, Ankara, Turkey; University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Turkey.
Placental mesenchymal dysplasia (PMD) is a rare placental pathology that sonographically mimics gestational trophoblastic diseases. However, mesenchymal dysplasia can be distinguished from other conditions by the presence of villous edema and the absence of trophoblastic proliferation in the placental tissue. This pathology has been demonstrated to be associated with fetal growth restriction, Beckwith-Wiedemann syndrome, some chromosomal abnormalities and intrauterine fetal demise.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
January 2025
Shenzhen Key Laboratory of Biomolecular Assembling and Regulation, Department of Neuroscience, School of Life Sciences, Southern University of Science and Technology, Shenzhen 518055, China.
Ankyrin Repeat Domain-containing Protein 11 () is a causative gene for KBG syndrome, a significant risk factor for Cornelia de Lange syndrome (CdLS), and a highly confident autism spectrum disorder gene. Mutations of lead to developmental abnormalities in multiple organs/tissues including the brain, craniofacial and skeletal bones, and tooth structures with unknown mechanism(s). Here, we find that ANKRD11, via a short peptide fragment in its N-terminal region, binds to the cohesin complex with a high affinity, implicating why mutation can cause CdLS.
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