Integration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y chromosome segment lengths in phenotypic males with 46,XX testicular disorder/difference of sex development
This study refines our understanding of the genetic composition in 46,XX DSD, describing the translocated Y chromosome segment in more detail than previously and linking variability herein to genome-wide changes in the transcriptome and methylome.
Authors
- Sandra Laurentino (ORCID: https://orcid.org/0000-0002-5213-2756)
- Frank Tüttelmann (ORCID: https://orcid.org/0000-0003-2745-9965)
- Anne Skakkebæk (ORCID: https://orcid.org/0000-0001-9178-4901)
- Ebbe Norskov Bak (ORCID: https://orcid.org/0009-0003-6033-8521)
- Jörg Gromoll (ORCID: https://orcid.org/0000-0002-7788-8138)
- Claus Højbjerg Gravholt (ORCID: https://orcid.org/0000-0001-5924-1720)
- Emma B. Johannsen (ORCID: https://orcid.org/0000-0002-1017-7702)
- Simon Opstrup Drue (ORCID: https://orcid.org/0000-0002-1401-6527)
- Arne Hørlyck (ORCID: https://orcid.org/0000-0003-4624-6973)
- Simon Chang (ORCID: https://orcid.org/0000-0003-1130-3659)
- Jens Fedder (ORCID: https://orcid.org/0000-0001-5383-5501)
- Jesper Just (ORCID: https://orcid.org/0000-0002-3825-0000)
- Agnethe Berglund (ORCID: https://orcid.org/0000-0001-9185-1342)
- Julia Rohayem (ORCID: https://orcid.org/0000-0002-7790-6631)
Institutions
- Aarhus University (DK)
- University of Münster (DE)
- Odense University Hospital (DK)
- Aarhus University Hospital (DK)
- Ostschweizer Kinderspital (CH)
Publication Details
- Journal
- Biology of Sex Differences
- Published
- 2024-10-08
- DOI
- https://doi.org/10.1186/s13293-024-00654-8
- Citations
- 7
- Primary Topic
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 3.85
Funders
- Aarhus Universitet
- Deutsche Forschungsgemeinschaft
- Danmarks Frie Forskningsfond
- A.P. Møller og Hustru Chastine Mc-Kinney Møllers Fond til almene Formaal
- Familien Hede Nielsens Fond
- Novo Nordisk Fonden