Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Butler, M.G. et al.

Merlin G. Butler, Mariana F. Theodoro, Douglas C. Bittel, Paul J. Kuipers, Daniel J. Driscoll, Zohreh Talebizadeh,

X-chromosome inactivation patterns in females with Prader-Willi syndrome.

Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder caused by loss of paternally expressed genes from the 15q11-q13 region generally due to a paternally-derived deletion of the 15q11-q13 region or maternal disomy 15 (UPD). Maternal disomy 15 is usually caused by maternal meiosis I non-disjunction associated with advanced maternal age and after fertilization with a normal sperm leading to trisomy 15, a lethal condition unless trisomy rescue occurs with loss of the paternal chromosome 15. To further characterize the pathogenesis of maternal disomy 15 process in PWS, the status of X-chromosome inactivation was calculated to determine whether non-random skewing of X-inactivation is present indicating a small pool of early embryonic cells. We studied X-chromosome inactivation in 25 females with PWS-UPD, 35 with PWS-deletion, and 50 controls (with similar means, medians, and age ranges) using the polymorphic androgen receptor (AR) gene assay. A significant positive correlation (r = 0.5, P = 0.01) was seen between X-chromosome inactivation and age for only the UPD group. Furthermore, a significantly increased level (P = 0.02) of extreme X-inactivation skewness (>90%) was detected in our PWS-UPD group (24%) compared to controls (4%). This observation could indicate that trisomy 15 occurred at conceptus with trisomy rescue in early pregnancy leading to extreme skewness in several PWS-UPD subjects. Extreme X-inactivation skewness may also lead to additional risks for X-linked recessive disorders in PWS females with UPD and extreme X-chromosome skewness.[1]

References

X-chromosome inactivation patterns in females with Prader-Willi syndrome. Butler, M.G., Theodoro, M.F., Bittel, D.C., Kuipers, P.J., Driscoll, D.J., Talebizadeh, Z. Am. J. Med. Genet. A (2007) [Pubmed]

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