Together, the work of Dr. Solter and Dr. Surani contributed to the understanding of the developmental consequences and molecular mechanisms of genomic imprinting. In 1984, they released parallel studies that demonstrated the concept of genomic imprinting. All cells in the animal contain two copies of every autosomal gene, one from the mother and one from the father, and in most cases both copies are expressed. However, “imprinted” genes are expressed only from either the maternally or the paternally inherited copy. Genomic imprinting has widespread roles in mammals, affecting embryonic and placental development and transmission of nutrients to the fetus, and regulating critical aspects of mammalian physiology, such as metabolism, neuronal development and adult behaviour. Extensive research based on this discovery led to the identification of numerous imprinted genes whose alleles are differentially expressed depending on the parent of origin.
Faulty imprints can lead to developmental, physiological and behavioural anomalies in mice, and result in diseases in humans. There is growing evidence for the importance of imprinting in disease susceptibility from developmental syndromes like Beckwith-Wiedemann, Angelman and Prader-Willi, to a variety of cancers and neurological disorders and obesity. It also has effects on diverse aspects of mammalian development and physiology, such as stem cells, core body temperature, nutrition and behaviour. Their work is one of the key discoveries that started the field of epigenetics, the study of heritable changes in gene function without changes in the DNA sequence.