Giannoukakis N, Deal C, Paquette J, Kukuvitis A, Polychronakos C
Department of Pediatrics, Division of Endocrinology, McGill University, Montreal, Quebec, Canada.
Biochem Biophys Res Commun. 1996 Mar 27;220(3):1014-9. doi: 10.1006/bbrc.1996.0524.
In most non-neoplastic tissues studied to date, IGF2 is expressed only from the paternal allele and H19 is expressed only from the maternal allele. The choroid plexus, the only normal tissue to date where IGF2 is expressed from both parental alleles, does not express H19. We present an additional situation in which biallelic IGF2 expression is associated with the absence of H19 transcription in normal tissue: blood cells. In blood cells, functional IGF2 imprinting was found to be a polymorphic trait among individuals: expression was biallelic in 79 out of 85 individuals, but the remaining 6 expressed a single allele. Only the latter expressed H19. Finally, the familial clustering of functional IGF2 imprinting in blood cells suggests that the trait may be genotype-dependent.
在迄今为止研究的大多数非肿瘤组织中，IGF2仅从父本等位基因表达，而H19仅从母本等位基因表达。脉络丛是迄今为止唯一从双亲等位基因均表达IGF2的正常组织，但不表达H19。我们提出了另一种情况，即双等位基因IGF2表达与正常组织中H19转录缺失相关：血细胞。在血细胞中，功能性IGF2印记被发现是个体间的多态性特征：85名个体中有79名的表达是双等位基因的，但其余6名只表达单一等位基因。只有后者表达H19。最后，血细胞中功能性IGF2印记的家族聚集表明该特征可能依赖于基因型。
