When Mom or Dad's inheritance counts

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Science  25 Mar 2016:
Vol. 351, Issue 6280, pp. 1412
DOI: 10.1126/science.351.6280.1412-c

Retinoblastoma (Rb), a largely inherited form of pediatric eye cancer, arises when patients carry two utant copies of the RB1 tumor suppressor gene. However, not all individuals carrying two mutant copies of RB1 go on to develop cancer. Eloy et al. investigated why, focusing on one specific mutation of RB1, and found differences depending on whether the mutant gene was maternally or paternally inherited. Maternal inheritance led to higher Rb protein expression, and because the particular mutation allowed for some residual protein function, this probably protected some individuals from developing cancer. Thus, in some cases, parent-of-origin effects can explain why genetic carriers may not always go on to develop disease.

PLOS Genet. 12, e1005888 (2016).

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