Turner syndrome (45,X TS) and Klinefelter syndrome (47,XXY KS) are human sex chromosome aneuploidies (SCAs). CircRNAs may help explain some of the genomic and phenotypic traits observed in these syndromes. Furthermore, several differentially expressed circRNAs had the potential to capture micro RNAs that targeted protein-coding genes with altered expression in TS and KS.Ĭonclusion: Sex chromosome aneuploidies introduce changes in the circRNA transcriptome, demonstrating that the genomic changes in these syndromes are more complex than hitherto thought. The host-genes from which several of these circRNAs were derived, were associated with known phenotypic traits. Results: Differential expression of circRNAs was observed throughout the genome in TS and KS, in all tissues. CircRNAs were identified using a combination of circRNA identification pipelines (CIRI2, CIRCexplorer2 and circRNA_finder). Methods: Samples of blood, muscle and fat were collected from individuals with TS ( n = 33) and KS ( n = 22) and from male ( n = 16) and female ( n = 44) controls. We profiled circRNAs in Turner syndrome females (45,X TS) and Klinefelter syndrome males (47,XXY KS) to investigate how circRNAs respond to a missing or an extra X chromosome. Purpose: The landscape of circular RNAs (circRNAs), an important class of non-coding RNAs that regulate gene expression, has never been described in human disorders of sex chromosome aneuploidies. 8Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.7Research Unit of Human Reproduction, Institute of Clinical Research, University of Southern Denmark, Odense, Denmark.6Centre of Andrology and Fertility Clinic, Department D, Odense University Hospital, Odense, Denmark.5Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark.4Steno Diabetes Center, Aarhus University Hospital, Aarhus, Denmark.3Otolaryngology-Head and Neck Surgery and Microbiology and Immunology, University of California, San Francisco, San Francisco, CA, United States.2Departments of Clinical Medicine, Aarhus University, Aarhus, Denmark.1Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.Pedersen 4, Katrine Meyer Lauritsen 4,5, Christian Trolle 1,5, Mette Glavind Bülow Pedersen 5, Simon Chang 5, Jens Fedder 6,7, Anne Skakkebæk 1,8 and Claus H. Viuff 1, Trine Line Hauge Okholm 1,3, Steen B. Johannsen 1,2*, Jesper Just 1,2, Mette H.
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