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

In human and mouse, most imprinted genes are arranged in chromosomal clusters. Their linked organization suggests co-ordinated mechanisms controlling imprinting and gene expression. The identification of local and regional elements responsible for the epigenetic control of imprinted gene expression...

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Bibliographic Details
Published in:	Human molecular genetics Vol. 7; no. 7; pp. 1149 - 1159
Main Authors:	Paulsen, Martina, Davies, Karen R., Bowden, Lucy M., Villar, Angela J., Franck, Olivia, Fuermann, Martina, Dean, Wendy L., Moore, Tom F., Rodrigues, Nanda, Davies, Kay E., Hu, Ren-J., Feinberg, Andrew P., Maher, Eamonn R., Reik, Wolf, Walter, Jörn
Format:	Journal Article
Language:	English
Published:	Oxford Oxford University Press 01-07-1998
Subjects:	Amino Acid Sequence Animals Beckwith-Wiedemann Syndrome - genetics Biological and medical sciences Chromosomes, Human, Pair 11 - genetics Contig Mapping Diseases of mother, fetus and pregnancy DNA-Binding Proteins Female Genetic Markers Genomic Imprinting - genetics Gynecology. Andrology. Obstetrics Humans KCNQ Potassium Channels KCNQ1 Potassium Channel Male Medical sciences Mice Mice, Inbred C57BL Molecular Sequence Data Multigene Family - genetics Nuclear Proteins - genetics Physical Chromosome Mapping Potassium Channels - genetics Potassium Channels, Voltage-Gated Pregnancy. Fetus. Placenta Sequence Homology, Nucleic Acid Genetic mapping Human Animal model Gigantism Beckwith Wiedemann syndrome Rodentia Synteny Chromosome 7 Gene expression Chromosome C11 Macrosomia Genetic disease Genomic imprinting Fetal diseases Vertebrata Mammalia Contig Mouse Malformation Physical map
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Summary:	In human and mouse, most imprinted genes are arranged in chromosomal clusters. Their linked organization suggests co-ordinated mechanisms controlling imprinting and gene expression. The identification of local and regional elements responsible for the epigenetic control of imprinted gene expression will be important in understanding the molecular basis of diseases associated with imprinting such as Beckwith-Wiedemann syndrome. We have established a complete contig of clones along the murine imprinting cluster on distal chromosome 7 syntenic with the human imprinting region at 11p15.5 associated with Beckwith-Wiedemann syndrome. The cluster comprises ∼1 Mb of DNA, contains at least eight imprinted genes and is demarcated by the two maternally expressed genes Tssc3 (Ipl) and H19 which are directly flanked by the non-imprinted genes Nap1l4 (Nap2) and Rpl23l (L23mrp), respectively. We also localized Kcnq1 (Kvlqt1) and Cd81 (Tapa-1) between Cdkn1c (p57Kip2) and Mash2. The mouse Kcnq1 gene is maternally expressed in most fetal but biallelically transcribed in most neonatal tissues, suggesting relaxation of imprinting during development. Our findings indicate conserved control mechanisms between mouse and human, but also reveal some structural and functional differences. Our study opens the way for a systematic analysis of the cluster by genetic manipulation in the mouse which will lead to animal models of Beckwith-Wiedemann syndrome and childhood tumours.
Bibliography:	ark:/67375/HXZ-945V59DC-H istex:E2468F43CDD45C608F6275238745E8D00F0B26F5 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0964-6906 1460-2083
DOI:	10.1093/hmg/7.7.1149