Table of Contents * Complex Genetics * Developmental Genetics * Gene Annotation * Gene Discovery * Genome Sequencing * Functional Genomics * Mutagenesis * Presentations * Verne Chapman Memorial Lecture
Mr Simon Ball
Medical Research Council
Mammalian Genetics Unit
MRC Harwell
Didcot OX11 0RD
Co-Authors: 1)Williamson CM, 1)Hacker T, 2)Woolf AS, 1)Peters J
Institutions: 1)MGU, MRC Harwell, 2)Nephro-Urology Unit, Institute of Child
Health, University College London
Functional genomics, empirical data reporting work in progress.
A cluster of imprinted genes has been identified on distal mouse chromosome 2: Nesp-Gnasxl-Gnas. Both Nesp and Gnasxl transcripts splice into exon 2 of Gnas. Gnas is known to encode a G protein alpha sub-unit (Gsa), whilst Nesp and Gnasxl encode neuroendocrine secretory proteins whose functions are not known. Additionally there are noncoding antisense transcripts, (Nespas), which start downstream of Nesp. Various studies have shown that transcripts from Nesp are expressed from the maternally derived allele, those of Nespas and Gnasxl from the paternal allele, whilst Gsa is maternally expressed in some tissues and biallelically in others. However there is conflicting evidence of the imprinting status of Gnas in the kidney and little is known about the expression of Nesp, Nespas and Gnasxl at a cell specific level. Using newborn mice that have inherited either only two maternal, or two paternal copies of distal chromosome 2, the expression patterns and imprinting status of these transcripts have been investigated in the kidney by in situ hybridisation. These studies clarify the imprinting status and contribute to the elucidation of the regulation of expression and function of Gnas, Gnasxl, Nesp and Nespas in kidney.
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