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Late replicating X chromosomes in human triploidy.

P A Jacobs, A M Matsuyama, I M Buchanan

American Journal of Human Genetics

|July 1, 1979

Summary

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This study investigated X-chromosome replication in human triploids (69,XXY and 69,XXX). X-chromosome inactivation patterns varied, with fetal tissues showing less late replication than extra-embryonic tissues.

Area of Science:

Human Genetics
Molecular Biology
Developmental Biology

Background:

Human triploidy (69,XXY and 69,XXX) presents unique challenges for understanding X-chromosome inactivation.
The parental origin of the extra haploid set can influence genetic expression and developmental pathways.

Purpose of the Study:

To investigate the status of X-chromosome replication in human triploid cells.
To determine if parental origin of triploidy correlates with X-chromosome inactivation patterns.
To explore the influence of tissue type and gestational age on X-chromosome replication in triploids.

Main Methods:

Analysis of X-chromosome replication patterns using chromosome heteromorphism studies in 69,XXY and 69,XXX triploid samples.
Comparison of replication status between fetal and extra-embryonic tissues.

Related Experiment Videos

Correlation analysis between gestational age and X-chromosome inactivation in extra-embryonic tissues.

Main Results:

Varied X-chromosome inactivation patterns were observed in both 69,XXY (no late X, one late X, or mosaic) and 69,XXX (one or two late X) triploids.
No correlation was found between the parental origin of triploidy and X-chromosome inactivation type.
Significantly lower numbers of late-replicating X chromosomes were found in fetal tissues compared to extra-embryonic tissues.
In extra-embryonic tissues, older gestational age correlated with a higher proportion of late-replicating X chromosomes.

Conclusions:

X-chromosome inactivation in human triploids is complex and tissue-dependent.
Fetal tissues exhibit distinct X-chromosome replication dynamics compared to extra-embryonic tissues.
Gestational age influences X-chromosome replication patterns in extra-embryonic tissues of triploids.