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Karyotype diversity plays an important role in speciation and diversification. However, gymnosperms, particularly conifers, exhibit remarkable karyotype uniformity. To explore the evolutionary processes shaping karyotypes in gymnosperms, the karyotype evolutionary history is reconstructed through comparative genomic analyses. Synteny analysis confirms the absence of ancient polyploidy in conifers and its rarity across the gymnosperms as a whole. Further analysis reveals convergent patterns of reciprocal translocations between nonhomologous chromosomes in conifer genomes. Centromeric-centromeric reciprocal translocations (CRTs) have been identified as the primary mechanism of karyotype evolution in conifers, while telomeric-centromeric reciprocal translocations (TRTs) significantly contributed to descending dysploidy within Cupressales. A graph-based method is utilized to infer the detailed evolutionary pathways from the proto-gymnosperm karyotype (n = 12) to modern conifer karyotypes (n = 11-12). In conclusion, the scarcity of both polyploidy and dysploidy contributes to the karyotype uniformity of gymnosperms and potentially also to their lower species richness compared to angiosperms. However, the pervasive CRTs and occasional TRTs underlie this "apparent uniformity", supporting the "karyotype orthoselection" hypothesis. This study provides new insights into the mechanisms maintaining karyotype uniformity in conifers and the role of karyotype evolution in their diversification.
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http://dx.doi.org/10.1002/advs.202411098 | DOI Listing |
Front Oncol
August 2025
Department of Pathology, West China Hospital, Sichuan University, Chengdu, China.
In this study, we retrospectively analyzed the clinicopathological features of a case of hepatic infantile hemangioma (HIH) that malignantly transformed into hemangiosarcoma. HIH, a congenital disease, is the most common benign tumor of the liver in children, and its malignant transformation into hepatic angiosarcoma (HAS) is rare. HIH expresses markers of vascular origin and specifically expresses glucose transporter protein isoform 1.
View Article and Find Full Text PDFCureus
August 2025
Gynecologic Oncology, University of Georgia, Tbilisi, GEO.
This case report elucidates the diagnostic trajectory of a female newborn, presenting with apparent clitoromegaly, ultimately diagnosed with congenital adrenal hyperplasia (CAH). The patient was born in a prominent obstetrics and gynecology center in Tbilisi, Georgia, where the anomaly was promptly identified following a physiologically normal pregnancy and labor. Despite the relative infrequency of such cases in our center, particularly among term infants, the handling of this case was swift and successful.
View Article and Find Full Text PDFStem Cell Res
August 2025
Université Paris Est, U955, INSERM, IMRB, F-94010 Créteil, France; Reference Center for Neuromuscular Disorders, APHP Henri Mondor University Hospital, Créteil, France. Electronic address:
CACNA1S gene variants are associated with congenital myopathies (CMyo) with triad dysfunction (triadopathies), malignant hyperthermia susceptibility, hypokalemic periodic paralysis and thyrotoxic periodic paralysis. Here, we generated three iPSC lines derived from patients with CMyo linked to both autosomal dominant and recessive CACNA1S variants (CACNA1S-CMyo). The three lines displayed typical iPSC morphology, uniform expression of markers of the undifferentiated state, trilineage differentiation potential and normal karyotypes.
View Article and Find Full Text PDFCureus
August 2025
Medicine, Pontificia Universidad Católica Madre y Maestra, Santiago de los Caballeros, DOM.
The 15q11.2 microdeletion syndrome, also known as Burnside-Butler syndrome (BBS), is a rare genetic disorder involving a deletion in the breakpoint 1 to breakpoint 2 (BP1-BP2) on the long arm of chromosome 15, often associated with growth retardation and delayed speech development. In contrast, rare manifestations consist of dysmorphic traits, seizures, and neurodevelopmental or psychiatric conditions such as epilepsy, autism spectrum disorder (ASD), and schizophrenia.
View Article and Find Full Text PDFTransl Pediatr
July 2025
Department of Urology, National Clinical Research Centre for Child Health, Zhejiang University School of Medicine Children's Hospital, Hangzhou, China.
Background: Loss-of-function variants in protein phosphatase 1 regulatory subunit 12A () can lead to urogenital and/or brain malformation syndrome (UBMS). When UBMS individuals exhibit genital abnormalities, it is combined with disorders of sex development (DSD). To report a variation in a case of 46,XY twins exhibiting different phenotypes of genital development.
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