A catalogue of imprinted genes and parent-of-origin effects in humans and animals
Human Molecular GeneticsPublished 1 September 1998Open access
Ian M. Morison
Citations254
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SJR score1.56
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TL;DR
A wide range of evidence and phenomena which indicate or suggest the presence of genomic imprinting in animals and human disease inheritance patterns which suggest the involvement of imprinted genes are cataloged.
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.
Keywords
Biochemistry, Genetics and Molecular Biology
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187 Citations1997P Sanjeeva Reddy, David E. Housman
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American Journal of Medical GeneticsRelationship between homozygosity at the dopamine D3 receptor gene and schizophrenia
181 Citations1994R. Mant, Julie Williams +4 more
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174 Citations1986B.M. Cattanach
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169 Citations1994Yoshihiro Jinno, Kankatsu Yun +5 more
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160 Citations1997Shin Kobayashi, Takashi Kohda +6 more
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141 Citations1996Graham E. Corley-Smith, Chinten James Lim +1 more
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140 Citations1993Christopher C. Glenn, Robert D. Nicholls +6 more
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137 Citations1993Huib N. Caron, Peter van Sluis +8 more
PubMedHigher risk of seizures in offspring of mothers than of fathers with epilepsy.
130 Citations1988Ruth Ottman, John F. Annegers +2 more
Differences between affected mothers and fathers in the characteristics of their epilepsy did not account for the higher risk in offspring of affected mothers, and anticonvulsant use during pregnancy was not associated with increased offspring seizure risk.
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128 Citations2008Gregor Mendel
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120 Citations1994R. Campbell, Christine Gosden +1 more
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119 Citations1991A. C. Chandley
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115 Citations1995Oskar W. Smrzka, Ingrid Faé +6 more
An analysis of the 5' portion of the human IGF2R gene is described and it is shown that it contains a maternally methylated CpG island in the second intron, suggesting that secondary DNA structure may play a role in attracting a maternal methylation imprint.
Human Molecular GeneticsChromosome 11p15.5 regional imprinting: comparative analysis of KIP2 and H19 in human tissues and Wilms' tumors
114 Citations1996Wendy K. Chung
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109 Citations1997Joomyeong Kim, Linda K. Ashworth +2 more
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105 Citations1989Timothy J. Crow, Lynn E. DeLisi +1 more
In 120 families that included at least one sibling pair with schizophrenia, affected members were significantly more likely to be of the same sex when there was a history of illness on the paternal than on the maternal side, the difference remaining significant when parent of origin was assessed by three different methods.
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105 Citations1997Rachel Wevrick, Uta Francke
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104 Citations1994Angela J. Villar, Roger A. Pedersen
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103 Citations1997Philip D. Cotter, Sara Kaffe +4 more
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99 Citations1937Sheldon C. Reed
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99 Citations1997F Quan, Jadwiga Janas +4 more
Nucleic Acids ResearchA new imprinted gene cloned by a methylation-sensitive genome scanning method
99 Citations1993lzuho Hatada, Takako Sugama +1 more
A new imprinted gene is cloned by searching for parental-origin-specific CpG methylations using methylation-sensitive two-dimensional genome scanning method, and encodes a putative 51 kDa protein with significant similarity to U2 small nuclear ribonucleoprotein auxiliary factor small subunits.
Human Molecular GeneticsIMPT1, an imprinted gene similar to polyspecific transporter and multi- drug resistance genes
98 Citations1998Dee N. Dao
Human Molecular GeneticsImprinting of mouse Kvlqt1 is developmentally regulated
97 Citations1998Todd D. Gould
Mouse Kvlqt1 is strongly expressed in heart, lung, gut, kidney and uterus, and the paternal allele becomes increasingly active during development, suggesting an explanation for the lack of parent of origin bias in JLN and long QT.
Nucleic Acids ResearchPeg5/Neuronatin is an imprinted gene located on sub-distal chromosome 2 in the mouse
97 Citations1997F Kagitani
Peg5/Neuronatin maps to sub-distal Chr 2, proximal to the previously established imprinted region where imprinted genes cause abnormal shape and behavior in neonates, and is analyzed further in this study.
Developmental BiologyGenetic and Functional Analysis of neuronatin in Mice with Maternal or Paternal Duplication of Distal Chr 2
95 Citations1997Nobuaki Kikyo, Christine M. Williamson +7 more
Although experimental embryos appeared grossly similar phenotypically in the structures where expression of Nnat was detected, differences in folding of the cerebellum were observed in neonates, and other more subtle developmental or behavioral effects due to gain or loss of N nat cannot be ruled out.
GenomicsMonoallelic Expression of HumanPEG1/MESTIs Paralleled by Parent-Specific Methylation in Fetuses
95 Citations1997A. Riesewijk, Landian Hu +6 more
In contrast to the monoallelic expression observed in fetal tissues, biallelic expression was evident in adult blood lymphocytes and was supported by the demonstration of PEG1/MEST transcripts in a lymphoblastoid cell line with maternal uniparental disomy 7.
PubMedDifferences in risk of Crohn's disease in offspring of mothers and fathers with inflammatory bowel disease.
95 Citations1997Pradip N. Akolkar, Beena Gulwani-Akolkar +5 more
Susceptibility to CD in a subset of patients may involve a gene that is imprinted, and this distortion in transmission on the basis of the sex of the parent was observed only among non-Jewish pairs with Crohn's disease.
Proceedings of the National Academy of SciencesScreening for imprinted genes by allelic message display: Identification of a paternally expressed gene <i>Impact</i> on mouse chromosome 18
94 Citations1997Yuriko Hagiwara, Momoki Hirai +5 more
The effectiveness of AMD screening was clearly demonstrated by the identification of a paternally expressed gene Impact on mouse chromosome 18, the predicted product of which belongs to the YCR59c/yigZ hypothetical protein family composed of yeast and bacterial proteins with currently unknown function.
PubMedFine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23.
93 Citations1997Bora E. Baysal, Joan E. Farr +15 more
Age at onset of symptoms was significantly different between fathers and children, and whether these data represent genetic anticipation or ascertainment bias can be addressed only by analysis of a larger number of father-child pairs.
Trends in GeneticsGrowth effects of uniparental disomies and the conflict theory of genomic imprinting
92 Citations1997Laurence D. Hurst, Gilean T. McVean
The conflict theory proposes that imprinting is an intra-individual manifestation of classical parent-offspring conflict, and is unique in predicting that imprinted genes expressed from the paternally derived genome should be enhancers of pre- and post-natal growth, while those expression from the maternallyderived genome shouldBe growth suppressors.
The British Journal of PsychiatryImprinting and Anticipation
89 Citations1994Philip Asherson, Cathy Walsh +7 more
Age of onset among parents and offspring was examined for evidence of both anticipation and genomic imprinting in schizophrenia, and the results do not suggest that either mechanism is operating in schizophrenia.
The American Journal of Human GeneticsMaternal Uniparental Disomy of Chromosome 1 with Reduction to Homozygosity of the LAMB3 Locus in a Patient with Herlitz Junctional Epidermolysis Bullosa
89 Citations1997Leena Pulkkinen, Florencia Bullrich +3 more
A unique patient with H-JEB, who was homozygous for a nonsense mutation, Q243X, in the LAMB3 gene on chromosome 1 and who had normal karyotype 46,XY, is described, the first description of uniparental disomy of human chromosome 1.
Journal of Clinical InvestigationIsodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.
87 Citations1994Marc Abramowicz, Marc Andrien +7 more
Paternal ID probably caused methylmalonic acidemia by duplication of a mutated allele of the corresponding gene on the chromosome 6 inherited from the father and it is very likely that ID was etiologically related to the agenesis of beta cells and consequent insulin-dependent diabetes mellitus in the authors' patient.
Journal of Medical GeneticsPrenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7.
84 Citations1995Sylvie Langlois, Siu Li Yong +3 more
A case of prenatal and postnatal growth retardation associated with a prenatal diagnosis of mosaicism for trisomy 7 confined to the placenta is reported and lends strong support to the hypothesis of imprinted gene(s) on chromosome 7.
Developmental BiologyTissue- and Developmental Stage-Specific Imprinting of the Mouse Proinsulin Gene, Ins2
83 Citations1995Louise Deltour, Xavier Montagutelli +3 more
Ins2 is subject to genomic imprinting in the yolk sac, and this imprinting is not only tissue-specific, but appears to be a multistep process with postzygotic events likely to play an important role in repression of the maternal allele.
GeneticsEvidence for a Genomic Imprinting Sex Determination Mechanism in Nasonia vitripennis (Hymenoptera; Chalcidoidea)
83 Citations1998Stephen L. Dobson, Mark A. Tanouye
The results of this study support the GISD model as the mechanism of sex determination in Chalcidoidea and demonstrate that sex determination is independent of embryonic heterozygosity, ploidy, and gametic syngamy but is directly correlated with the embryonic presence of correctly imprinted chromosomes of paternal origin.
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