Maternal inheritance of the Gnas cluster mutation Ex1A-T affects size, implicating NESP55 in growth

作者：Eaton Sally A^*; Hough Tertius; Fischer Colbrie Reiner; Peters Jo

来源：Mammalian Genome, 2013, 24(7-8): 276-285.

DOI：10.1007/s00335-013-9462-2

Genes subjected to genomic imprinting are often associated with prenatal and postnatal growth. Furthermore, it has been observed that maternally silenced/paternally expressed genes tend to favour offspring growth, whilst paternally silenced/maternally expressed genes will restrict growth. One imprinted cluster in which this has been shown to hold true is the Gnas cluster; of the three proteins expressed from this cluster, two, Gs alpha and XL alpha s, have been found to affect postnatal growth in a number of different mouse models. The remaining protein in this cluster, NESP55, has not yet been shown to be involved in growth. We previously described a new mutation, Ex1A-T, which upon paternal transmission resulted in postnatal growth retardation due to loss of imprinting of Gs alpha and loss of expression of the paternally expressed XL alpha s. Here we describe maternal inheritance of Ex1A-T which gives rise to a small but highly significant overgrowth phenotype which we attribute to reduction of maternally expressed NESP55.

• 出版日期2013-8