Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis.
gene expression regulation
gene rearrangement
high-throughput nucleotide sequencing
sequence analysis, DNA
sex determination processes
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
05 2023
05 2023
Historique:
received:
29
04
2022
accepted:
25
08
2022
medline:
24
4
2023
pubmed:
14
10
2022
entrez:
13
10
2022
Statut:
ppublish
Résumé
Duplications at the Xp21.2 locus have previously been linked to 46,XY gonadal dysgenesis (GD), which is thought to result from gene dosage effects of Patients with 46,XY GD were analysed by whole genome sequencing. Identified structural variants were confirmed by array CGH and analysed by high-throughput chromosome conformation capture (Hi-C). We identified two unrelated patients: one showing a complex rearrangement upstream of Here we present a general mechanism how deletions, duplications or inversions at the
Sections du résumé
BACKGROUND
Duplications at the Xp21.2 locus have previously been linked to 46,XY gonadal dysgenesis (GD), which is thought to result from gene dosage effects of
METHODS
Patients with 46,XY GD were analysed by whole genome sequencing. Identified structural variants were confirmed by array CGH and analysed by high-throughput chromosome conformation capture (Hi-C).
RESULTS
We identified two unrelated patients: one showing a complex rearrangement upstream of
CONCLUSION
Here we present a general mechanism how deletions, duplications or inversions at the
Identifiants
pubmed: 36227713
pii: jmg-2022-108635
doi: 10.1136/jmg-2022-108635
pmc: PMC10176412
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
469-476Informations de copyright
© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
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