A catalogue of imprinted genes and parent-of-origin effects in humans and animals

Abstract

Parent-of-origin effects were first recorded >3000 years ago by mule breeders in Asia Minor. There are now several different types of evidence suggesting the presence of a large number of imprinted genes, many of which have not yet been identified. Here, we catalogue a wide range of evidence and phenomena which indicate or suggest the presence of genomic imprinting in animals. This evidence includes: the direct documentation of parent-of-origin-specific gene transcription; human disease inheritance patterns which suggest the involvement of imprinted genes; and older, less well studied animal models which may show parent-of-origin effects.

Novel Imprinted DLK1/GTL2 Domain on Human Chromosome 14 Contains Motifs that Mimic Those Implicated in IGF2/H19 Regulation

“…Imprinted genes have been linked to a number of human behavioral and developmental disorders, including Angelman, Prader-Willi, and Beckwith-Wiedemann syndromes, as well as a variety of pediatric and adult malignancies (for reviews, see Nicholls et al 1998;Falls et al 1999;Mann and Bartolomei 1999;. Evidence also suggests that a number of unidentified imprinted genes underlie the etiology of other human disorders, including autism, schizophrenia, bipolar disease, and Crohn's disease (Morison and Reeve 1998;Isles and Wilkinson 2000). Therefore, the isolation and characterization of novel imprinted genes will provide further insight into their roles in these disorders as well as into the regulatory mechanisms fundamental to this intriguing phenomenon.…”

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation

“…18 This feature is illustrated by the results of family 4 where the proband carries a maternal heterodisomy of the telomere of chromosome 17q. On the basis of the haplotype analysis, the mechanism responsible for this partial UPD of chromosome 17 is likely to be the consequence of the fertilization of a maternal disomic gamete (due to a nondisjunction error) by a monosomic paternal gamete.…”

A detailed genetic map of the chromosome 7 bronchial hyper-responsiveness locus

“…Many studies have shown that parent of origin effects are important in genetic traits. 26 Maternal atopic status has been consistently shown to be significantly more predictive than paternal status in determining the atopic status of a child, 27 and preferential transmission or sharing of maternal or paternal alleles has been recognised at several loci involved in asthma and other diseases. 1 The mechanisms commonly proposed are parental allele-specific transcription (imprinting) and some unknown in utero mechanism.…”