International Mammalian Genome Society

The 13th International Mouse Genome Conference
October 31-November 3, 1999

Table of Contents * Structure * Bioinformatics * Sequence * Mapping * New Tools * Gene Discovery * Developmental * Mutagenesis * Functional Genomics

A11 Characterization of a New Imprinted Domain in Proximal Mouse Chromosome 7/Human Chromosome 19q13.4

Joomyeong Kim1,2, Anne Bergmann1, Xiaochen Lu1, Elbert Branscomb1,2, and Lisa Stubbs1,2. 1Human Genome Center, Biology and Biotechnology Research Program, Lawrence Livermore National Laboratory, 7000 East Avenue, Livermore, CA 94551; 2DOE Joint Genome Institute, 2800 Mitchell Drive, Walnut Creek, CA 94598

The two parental alleles of a subset of mammalian genes are functionally nonequivalent due to genome imprinting, by which one allele become transcriptionally silent depending upon the parental-origin of the allele. Many imprinted genes are expressed in early embryonic stages and neuronal cells, and are shown to play crucial roles in the embryonic development and parental caring behavior of mammals. We are currently characterizing a newly described imprinted domain located in proximal mouse chromosome 7 (Mmu7), and are involved in comparative physical mapping and sequence analysis of this region. The proximal Mmu7 domain contains two known imprinted genes, Peg3 and Zim1, which are oppositely imprinted: Peg3 is expressed from the paternal allele and Zim1 from the maternal chromosome. We have also characterized the homologous human region of chromosome 19q13.4, which contains human PEG3 and ZIM2, a zinc-finger gene that is clearly distinct from Zim1 but located in the analogous position, next to PEG3. Our data show that PEG3 and ZIM2 share 5'-exons and possibly regulatory elements for transcription; however, exon sharing does not occur between Peg3 and Zim1 in mouse. The clustering of imprinted genes has been well documented in other imprinted domains such as Prader-Willi/Angelman syndrome and Beckwith-Wiedemann syndrome regions, and preliminary data also indicate the presence of additional imprinted genes in the region surrounding Peg3 and Zim1. Our progress in characterization of this new imprinted domain will be discussed.


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