and . (Teleostei: Centrarchiformes: Oplegnathidae), are commercially important rocky reef fishes, endemic to East Asia. Both species present an XXY sex chromosome system. Here, we investigated the evolutionary forces behind the origin and differentiation of these sex chromosomes, with the aim to elucidate whether they had a single or convergent origin. To achieve this, conventional and molecular cytogenetic protocols, involving the mapping of repetitive DNA markers, comparative genomic hybridization (CGH), and whole chromosome painting (WCP) were applied. Both species presented similar 2n, karyotype structure and hybridization patterns of repetitive DNA classes. 5S rDNA loci, besides being placed on the autosomal pair 22, resided in the terminal region of the long arms of both X chromosomes in females, and on the X and Y chromosomes in males. Furthermore, WCP experiments with a probe derived from the Y chromosome of . (OFAS-Y) entirely painted the X and X chromosomes in females and the X, X, and Y chromosomes in males of both species. CGH failed to reveal any sign of sequence differentiation on the Y chromosome in both species, thereby suggesting the shared early stage of neo-Y chromosome differentiation. Altogether, the present findings confirmed the origin of the XXY sex chromosomes via Y-autosome centric fusion and strongly suggested their common origin.
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http://dx.doi.org/10.3390/ijms20143571 | DOI Listing |
Biol Sex Differ
December 2024
Department of Internal Medicine, Pulmonary, Critical Care, and Sleep Medicine, Rush University Medical Center, Chicago, IL, 60612, USA.
In humans, the X and Y chromosomes determine the biological sex, XX specifying for females and XY for males. The long noncoding RNA X-inactive specific transcript (lncRNA XIST) plays a crucial role in the process of X chromosome inactivation (XCI) in cells of the female, a process that ensures the balanced expression of X-linked genes between sexes. Initially, it was believed that XIST can be expressed only from the inactive X chromosome (Xi) and is considered a typically female-specific transcript.
View Article and Find Full Text PDFPsychiatry Res Neuroimaging
January 2025
Stanford University School of Medicine, Department of Psychiatry and Biobehavioral Sciences, 1520 Page Mill Road, Stanford, California, 94305, United States; Stanford University School of Medicine, Department of Radiology, United States; Stanford University School of Medicine, Department of Pediatrics, United States.
Klinefelter syndrome (KS, 47,XXY) is a common sex chromosome aneuploidy in males that is characterized by pubertal developmental delays and a wide range of alterations in cognitive, social and emotional functioning. The neural bases of these behavioral symptoms, however, are unclear. A total of 130 boys and adolescents, including 67 males with KS (11.
View Article and Find Full Text PDFmedRxiv
November 2024
National Institutes of Health, National Institute of Mental Health, Bethesda, MD, United States.
Sex chromosome trisomies (SCTs) are a group of genetic disorders characterized by presence of a supernumerary sex chromosome, resulting in karyotypes other than XX or XY. These include XXX (Trisomy X), XXY (Klinefelter syndrome), and XYY (Jacobs syndrome). Sex chromosome trisomies have been linked to increased risk for psychopathology; however, this relationship warrants additional research.
View Article and Find Full Text PDFSci Rep
November 2024
Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
This study aimed to investigate the serum biochemical markers' propensity associated with sex chromosome abnormalities (SCAs) and assess the clinical efficacy of SCAs in serum biochemical screening during the second trimester. A retrospective case-control analysis was conducted on pregnant women who underwent serum biochemical screening during the second trimester. The study compared groups of women with SCAs to those with normal chromosome karyotypes to assess changes in biochemical markers.
View Article and Find Full Text PDFJ Genet Couns
November 2024
Department of Obstetrics and Gynecology, Boston University Chobanian and Avedisian School of Medicine, Boston, Massachusetts, USA.
There are minimal guidelines regarding the disclosure of XXY, otherwise called Klinefelter syndrome, in healthcare or within the family. The increased use of cell-free DNA (cfDNA) to screen for fetal aneuploidy and sex chromosomes bolsters the importance of providing genetic counselors, other healthcare professionals (HCPs), and parents with XXY-led disclosure information. The aim of this qualitative study was to discern the preferences of adults of XXY in the disclosure of XXY status across the lifespan to best inform the clinical and social aspects of their care.
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