Random X chromosome inactivation in patients with Klinefelter syndrome.
47,XXY
Aneuploidy
DNA methylation
Sex chromosome
Skewed inactivation
Journal
Molecular and cellular pediatrics
ISSN: 2194-7791
Titre abrégé: Mol Cell Pediatr
Pays: Germany
ID NLM: 101660689
Informations de publication
Date de publication:
24 Jan 2020
24 Jan 2020
Historique:
received:
03
10
2019
accepted:
02
01
2020
entrez:
25
1
2020
pubmed:
25
1
2020
medline:
25
1
2020
Statut:
epublish
Résumé
X chromosome inactivation (XCI) is an indispensable process in the development of human female embryos. Reportedly, XCI occurs when a blastocyst contains 10-12 embryonic progenitor cells. To date, it remains unclear whether XCI ratios are normally preserved in Klinefelter syndrome (KS) patients with 47,XXY karyotype. We examined XCI ratios in 18 KS patients through DNA methylation analysis for the polymorphic trinucleotide locus in the AR gene. The results of the KS patients were compared to previous data from healthy young women. XCI ratios in KS patients followed a normal distribution. Skewed XCI was observed in two patients, one of whom exhibited extremely skewed XCI. The frequencies of skewed and extremely skewed XCI in the KS cohort were comparable to those in healthy women. This study confirmed the rarity of skewed XCI in KS patients. These results indicate that the presence of a supernumerary X chromosome during the cleavage and early blastocyst stages does not affect the developmental tempo of embryos. Our data deserve further validation.
Sections du résumé
BACKGROUND
BACKGROUND
X chromosome inactivation (XCI) is an indispensable process in the development of human female embryos. Reportedly, XCI occurs when a blastocyst contains 10-12 embryonic progenitor cells. To date, it remains unclear whether XCI ratios are normally preserved in Klinefelter syndrome (KS) patients with 47,XXY karyotype.
METHODS
METHODS
We examined XCI ratios in 18 KS patients through DNA methylation analysis for the polymorphic trinucleotide locus in the AR gene. The results of the KS patients were compared to previous data from healthy young women.
RESULTS
RESULTS
XCI ratios in KS patients followed a normal distribution. Skewed XCI was observed in two patients, one of whom exhibited extremely skewed XCI. The frequencies of skewed and extremely skewed XCI in the KS cohort were comparable to those in healthy women.
CONCLUSION
CONCLUSIONS
This study confirmed the rarity of skewed XCI in KS patients. These results indicate that the presence of a supernumerary X chromosome during the cleavage and early blastocyst stages does not affect the developmental tempo of embryos. Our data deserve further validation.
Identifiants
pubmed: 31974854
doi: 10.1186/s40348-020-0093-x
pii: 10.1186/s40348-020-0093-x
pmc: PMC6979883
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1Subventions
Organisme : Japan Society for the Promotion of Science
ID : 17H06248
Organisme : Japan Society for the Promotion of Science
ID : 17H03616
Organisme : Japan Agency for Medical Research and Development
ID : 18ek0109266h0002
Organisme : Japan Agency for Medical Research and Development
ID : 18ek0109278h0002
Organisme : National Center for Child Health and Development
ID : 2019-A1
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