An extended region of biallelic gene expression and rodent-human synteny downstream of the imprinted H19 gene on chromosome 11p15.5

Human Molecular Genetics
L YuanB Tycko

Abstract

There is increasing evidence for chromosomal domains containing multiple imprinted genes and for domain-wide disruption of imprinting in certain diseases. In a majority of Wilms' tumors (WTs) there is an abnormal bipaternal pattern of expression at three imprinted loci, H19, IGF2 and KIP2, clustered on chromosome 11p15.5. We previously described biallelic expression of L23MRP, 40 kb downstream of H19. Here we map two additional genes, the first encoding a ubiquitously expressed RNA, 2G7, and the second encoding the fast isoform of skeletal muscle troponin-T (TNNT3), in the 55 kb of DNA downstream of L23MRP. 2G7 RNA is spliced and polyadenylated but lacks long open reading frames. 2G7 and TNNT3 are biallelically expressed in mid-fetal and adult human tissues and 2G7 shows persistent expression in WTs. The rat homologue of L23MRP is highly conserved and lies within 85 kb of H19 in a region of rat chromosome 1 which also contains IGF2 and TNNT3. Parallel expression of H19 and TNNT3 in different adult skeletal muscle types suggests that these genes may share an enhancer. These data outline multiple contiguous loci downstream of H19 which escape functional imprinting in humans. The rodent-human synteny of this region may facilitate ...Continue Reading

Citations

Aug 28, 1999·Molecular Biotechnology·J M Greally
Jan 1, 1997·Mammalian Genome : Official Journal of the International Mammalian Genome Society·J M GreallyS Zemel
Mar 4, 1998·Molecular and Cellular Endocrinology·P UngaroA Riccio
Apr 1, 1996·Current Opinion in Genetics & Development·B Neumann, D P Barlow
Nov 2, 2001·Molecular and Cellular Biology·C R KafferK Pfeifer
Feb 18, 2003·Human Genetics·Michael GoldbergBenjamin Tycko
Apr 1, 1997·Mutation Research·B Tycko

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