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Northern blot with a probe for Nespas detects a smear and discrete band of 4.4kb and larger (Wroe (2000)). In addition to an unspliced form, five alternatively spliced forms of up to 1.4 kb in length have also been detected (Williamson (2002)). Imprinted (transcribed from the paternal allele). Transcribed from intron 2 of Nesp (Gnas), encompassing exons 2 through 1. The imprinted GNAS locus encodes the alpha-subunit of the stimulatory G protein as well as additional imprinted transcripts including the maternally expressed NESP55 and other paternally expressed transcripts (XLalphas and A/B transcripts).
A 4.2 kb microdeletion in humans that ablates two GNAS antisense exons is associated with pseudohypoparathyroidism type Ib. When maternally transmitted, this mutation causes loss of maternal GNAS imprints, partial gain of NESP55 methylation, and resistance to parathyroid hormone (PTH) in affected and obligate carrier individuals. Paternal transmission leads to epigenetic alterations in cis, including a partial loss of NESP55 methylation and a partial gain of A/B methylation. (Chillambhi (2010)). Nespas RNA was identified as binding to the repressive PRC2 chromatin modification complex in mouse embryonic stem cells, suggesting that like noncoding RNAs from other imprinted region, nespas could act to regulate the imprinting cluster it is transcribed from (Zhao (2010)).
Tissue-specific expression with signal in heart, in cerebral cortex, adrenal, and spleen, where Nesp is also expressed. Nesp and Nespas transcripts show expression from opposite parental alleles in most (but not all) tissues (Li (2000)), and Nespas may be abundant in some tissues where Nesp is not detected (Williamson (2002)). Furthermore, the Nesp transcripts can also remain imprinted in tissues that lack Nespas.
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