Li L, Keverne E B, Aparicio S A, Ishino F, Barton S C, Surani M A
Wellcome CRC Institute of Cancer and Developmental Biology, and Physiological Laboratory, University of Cambridge, Tennis Court Road, Cambridge CB2 1QR, UK.
Science. 1999 Apr 9;284(5412):330-3. doi: 10.1126/science.284.5412.330.
Imprinted genes display parent-of-origin-dependent monoallelic expression that apparently regulates complex mammalian traits, including growth and behavior. The Peg3 gene is expressed in embryos and the adult brain from the paternal allele only. A mutation in the Peg3 gene resulted in growth retardation, as well as a striking impairment of maternal behavior that frequently resulted in death of the offspring. This result may be partly due to defective neuronal connectivity, as well as reduced oxytocin neurons in the hypothalamus, because mutant mothers were deficient in milk ejection. This study provides further insights on the evolution of epigenetic regulation of imprinted gene dosage in modulating mammalian growth and behavior.
印记基因表现出依赖亲本来源的单等位基因表达,这种表达显然调控着复杂的哺乳动物性状,包括生长和行为。Peg3基因仅从父本等位基因在胚胎和成年大脑中表达。Peg3基因的突变导致生长迟缓,以及母性行为的显著受损,这常常导致后代死亡。这个结果可能部分归因于神经元连接缺陷,以及下丘脑催产素神经元减少,因为突变的母亲在乳汁排出方面存在缺陷。这项研究为印记基因剂量的表观遗传调控在调节哺乳动物生长和行为中的进化提供了进一步的见解。