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Related Experiment Videos

A possible active segment on the inactive human X chromosome.

E Therman, G E Sarto, C Distèche

    Chromosoma
    |December 16, 1976
    PubMed
    Summary

    The study found that isodicentric X chromosomes with two active "b regions" (idic(Xp--)) result in more bipartite Barr bodies compared to those with one (idic(Xq--)). This suggests the Xp b region remains active, influencing Barr body structure.

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    Area of Science:

    • Human Genetics
    • Cytogenetics
    • Epigenetics

    Background:

    • Barr bodies are condensed inactive X chromosomes, crucial for dosage compensation in females.
    • Structural abnormalities of the X chromosome, such as isodicentric X chromosomes, can alter Barr body formation and X inactivation patterns.
    • The 'b region' on the short arm of the X chromosome (Xp) is implicated in X inactivation, but its precise role in abnormal structures is debated.

    Purpose of the Study:

    • To investigate the relationship between the number of active Xp 'b regions' and Barr body morphology in isodicentric X chromosomes.
    • To compare Barr body characteristics in individuals with idic(Xp--) versus idic(Xq--) X chromosome abnormalities.
    • To elucidate the role of the Xp b region in X inactivation and Barr body formation.

    Main Methods:

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    • Comparative analysis of Barr body morphology (percentage of bipartite bodies and inter-chromatin distance) in fibroblasts and buccal cells.
    • Karyotyping to identify and classify X chromosome structural abnormalities (idic(Xp--) and idic(Xq--)).
    • Statistical analysis to determine the significance of observed differences in Barr body characteristics.

    Main Results:

    • Isodicentric X chromosomes with two Xp b regions (idic(Xp--)) exhibited a significantly higher percentage of bipartite Barr bodies (63.8%) compared to those with one (idic(Xq--, 22.2%).
    • The mean distance between the two parts of Barr bodies was significantly greater in idic(Xp--) fibroblasts.
    • Buccal cells from a woman with idic(Xp--) also showed a notable number of bipartite Barr bodies, contrasting with other abnormal X chromosome cases.

    Conclusions:

    • The Xp b region likely remains constitutively active, even within isodicentric X chromosomes.
    • The presence of two active Xp b regions leads to extended Barr bodies, increasing bipartite formation and inter-chromatin distance.
    • This provides a mechanism explaining altered Barr body morphology in specific X chromosome structural abnormalities.