DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients.
Journal
European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235
Informations de publication
Date de publication:
08 2022
08 2022
Historique:
received:
04
04
2021
accepted:
26
10
2021
revised:
12
10
2021
pubmed:
16
11
2021
medline:
6
8
2022
entrez:
15
11
2021
Statut:
ppublish
Résumé
Myotonic dystrophy type 1 (DM1) is an autosomal dominant muscular dystrophy that results from a CTG expansion (50-4000 copies) in the 3' UTR of the DMPK gene. The disease is classified into four or five somewhat overlapping forms, which incompletely correlate with expansion size in somatic cells of patients. With rare exception, it is affected mothers who transmit the congenital (CDM1) and most severe form of the disease. Why CDM1 is hardly ever transmitted by fathers remains unknown. One model to explain the almost exclusive transmission of CDM1 by affected mothers suggests a selection against hypermethylated large expansions in the germline of male patients. By assessing DNA methylation upstream to the CTG expansion in motile sperm cells of four DM1 patients, together with availability of human embryonic stem cell (hESCs) lines with paternally inherited hypermethylated expansions, we exclude the possibility that DMPK hypermethylation leads to selection against viable sperm cells (as indicated by motility) in DM1 patients.
Identifiants
pubmed: 34776509
doi: 10.1038/s41431-021-00999-3
pii: 10.1038/s41431-021-00999-3
pmc: PMC9349176
doi:
Substances chimiques
DMPK protein, human
0
Myotonin-Protein Kinase
EC 2.7.11.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
980-983Informations de copyright
© 2021. The Author(s).
Références
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