Syntenic Organization of the Mouse Distal Chromosome 7 Imprinting Cluster and the Beckwith-Wiedemann Syndrome Region in Chromosome 11p15.5

Paulsen, Martina; Davies, Karen; Bowden, Lucy; Villar, Angela J.; Franck, Olivia; Fuermann, Martina; Dean, Wendy; Moore, Tom; Rodrigues, Nanda; Davies, Kay E.; Hu, Ren Ju; Feinberg, Andrew P.; Maher, Eamonn R.; Reik, Wolf; Walter, Jörn

doi:10.1093/hmg/7.7.1149

Cited by 100 publications

(74 citation statements)

References 70 publications

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“…Similarly as in the Peromyscus hybrids, however, there is loss of DNA methylation at the Peg3 differentially methylated region in (MU Â S)F 1 but not in (S Â MU)F 1 hybrids (Shi et al, 2005). Earlier studies analysed allelic DNA methylation at different ICRs in (MU Â S)F 1 embryos, but did not provide evidence for extensive methylation losses (Paulsen et al, 1998). Global methylation levels are normal in the hybrid placentae, with no evidence for loss of methylation at repeat elements (Schutt et al, 2003).…”

Section: Imprinted Gene Expression In Mammalian Interspecies Hybridsmentioning

confidence: 95%

Imprinted gene expression in hybrids: perturbed mechanisms and evolutionary implications

2014

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Diverse mechanisms contribute to the evolution of reproductive barriers, a process that is critical in speciation. Amongst these are alterations in gene products and in gene dosage that affect development and reproductive success in hybrid offspring. Because of its strict parent-of-origin dependence, genomic imprinting is thought to contribute to the aberrant phenotypes observed in interspecies hybrids in mammals and flowering plants, when the abnormalities depend on the directionality of the cross. In different groups of mammals, hybrid incompatibility has indeed been linked to loss of imprinting. Aberrant expression levels have been reported as well, including imprinted genes involved in development and growth. Recent studies in humans emphasize that genetic diversity within a species can readily perturb imprinted gene expression and phenotype as well. Despite novel insights into the underlying mechanisms, the full extent of imprinted gene perturbation still remains to be determined in the different hybrid systems. Here we review imprinted gene expression in intra-and interspecies hybrids and examine the evolutionary scenarios under which imprinting could contribute to hybrid incompatibilities. We discuss effects on development and reproduction and possible evolutionary implications.

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Section: Imprinted Gene Expression In Mammalian Interspecies Hybridsmentioning

confidence: 95%

Imprinted gene expression in hybrids: perturbed mechanisms and evolutionary implications

2014

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“…All genes whose orthologues exhibit placental-specific maternal expression in the mouse, and under the control of the KvDMR1 (NAPIL4, CD81, PHEMEX, and ASCL2) (4,6,15,16) were found to be expressed biallelically in human fetal tissues and in first-trimester and term placental samples ( Fig. 1; see also Table 1, which is published as supporting information on the PNAS web site).…”

Section: Allelic Expression and Methylation Within The Kcnq1 Domainmentioning

confidence: 99%

Limited evolutionary conservation of imprinting in the human placenta

Monk

Arnaud

Apostolidou

et al. 2006

Proc. Natl. Acad. Sci. U.S.A.

234

205

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The epigenetic phenomenon of genomic imprinting provides an additional level of gene regulation that is confined to a limited number of genes, frequently, but not exclusively, important for embryonic development. The evolution and maintenance of imprinting has been linked to the balance between the allocation of maternal resources to the developing fetus and the mother's well being. Genes that are imprinted in both the embryo and extraembryonic tissues show extensive conservation between a mouse and a human. Here we examine the human orthologues of mouse genes imprinted only in the placenta, assaying allele-specific expression and epigenetic modifications. The genes from the KCNQ1 domain and the isolated human orthologues of the imprinted genes Gatm and Dcn all are expressed biallelically in the human, from first-trimester trophoblast through to term. This lack of imprinting is independent of promoter CpG methylation and correlates with the absence of the allelic histone modifications dimethylation of lysine-9 residue of H3 (H3K9me2) and trimethylation of lysine-27 residue of H3 (H3K27me3). These specific histone modifications are thought to contribute toward regulation of imprinting in the mouse. Genes from the IGF2R domain show polymorphic concordant expression in the placenta, with imprinting demonstrated in only a minority of samples. Together these findings have important implications for understanding the evolution of mammalian genomic imprinting. Because most human pregnancies are singletons, this absence of competition might explain the comparatively relaxed need in the human for placentalspecific imprinting.histones ͉ methylation ͉ epigenetics

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“…The region is heavily imprinted, leading to suggestions that epigenetic imprinting may be involved in the regulation of cellular growth (Feinberg, 1999). The gene cluster is conserved between human and mouse (Paulsen et al, 1998). Among the genes located in the region, mutation of the IGF2 (insulin-like growth factor 2) gene was shown to have a high correlation with Wilms' tumor (Ravenel et al, 2001), and loss of imprinting in IGF2 is associated with personal/family history of colorectal neoplasia (Cui et al, 2003) and with hepatocarcinoma (Poirier et al, 2003).…”

Section: Introductionmentioning

confidence: 99%

Tumor suppressor candidate TSSC5 is regulated by UbcH6 and a novel ubiquitin ligase RING105

Yamada

Gorbsky

2005

Oncogene

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The region of human chromosome 11p15.5 is linked with Beckwith-Wiedemann syndrome that is associated with susceptibility to Wilms' tumor, rhabdomyosarcoma and hepatoblastoma. TSSC5 (tumor-suppressing subchromosomal transferable fragment cDNA; also known as ORCTL2/IMPT1/BWR1A/SLC22A1L) is located in the region. The expression of TSSC5 and other genes in the region is regulated through paternal imprinting. Mutations and/or reduced expression of TSSC5 have been found in certain tumors. TSSC5 encodes an efflux transporter-like protein with 10 transmembrane domains, whose regulation may affect drug sensitivity, cellular metabolism and growth. Here, we present evidences indicating that RING105, a novel conserved RING-finger protein with a PA (protease-associated) domain and a PEST sequence, is a ubiquitin ligase for TSSC5 that can function in concert with the ubiquitin-conjugating enzyme UbcH6. The polyubiquitin target site on TSSC5 was mapped to a region in the 6th hydrophilic loop. Ectopic expression of RING105 in HeLa cells caused an accumulation of cells during G1 that was not observed with the expression of a form of RING105 in which a residue within the RING finger was mutated to inactivate its ligase activity. UbcH6-RING105 may define a novel ubiquitin-proteasome pathway that targets TSSC5 in mammalian cells.

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Syntenic Organization of the Mouse Distal Chromosome 7 Imprinting Cluster and the Beckwith-Wiedemann Syndrome Region in Chromosome 11p15.5

Cited by 100 publications

References 70 publications

Imprinted gene expression in hybrids: perturbed mechanisms and evolutionary implications

Imprinted gene expression in hybrids: perturbed mechanisms and evolutionary implications

Limited evolutionary conservation of imprinting in the human placenta

Tumor suppressor candidate TSSC5 is regulated by UbcH6 and a novel ubiquitin ligase RING105

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