Transcription mapping and expression analysis of candidate genes in the vicinity of the mouse Loop-tail mutation View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2000-08

AUTHORS

D. Alan Underhill, Kyle J. Vogan, Zoha Kibar, Jodi Morrison, Johanna Rommens, Philippe Gros

ABSTRACT

Loop-tail (Lp) is a semidominant mutation that maps to the distal portion of mouse Chromosome (Chr) 1 and is an established model for neural tube defects (NTDs). Homozygous embryos exhibit an open neural tube from the caudal midbrain to the tip of the tail that results from over-differentiation of the floor plate. To facilitate the positional cloning of the Lp gene, both cDNA selection and assignment of sequence-tagged-sites from the human transcript map have been used to identify genes within the Lp interval. Together with previous physical mapping, this has allowed the placement of 13 transcription units within an approximately 1-Mb region that spans the Lp genetic interval, and eight of these genes map to the nonrecombinant interval. This map includes genes that encode proteins involved in protein sorting and targeting (Tim23 and Copa), ion transport (Atp1a2, Atp1a4, and Girk3), transcription (Nhlh1), immune regulation (Cd48 and Fcer1alpha), cell adhesion (R88252), apoptosis (Pea15), and several of unknown function (H326, Kiaa0253, and Estm34). Expression analysis by Northern blotting indicated that a subset of these genes are expressed preferentially in the developing nervous system. Finally, this region of mouse Chr 1 represents a conserved linkage group with genes on human chromosome 1q21, a region that is frequently altered in human cancers and that harbors loci for several genetic conditions. Consequently, analysis of the Lp interval may provide important tools to understand how the corresponding region of human Chr 1 contributes to disease, in addition to defining a key gene product required for neurulation. More... »

PAGES

633-638

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s003350010118

DOI

http://dx.doi.org/10.1007/s003350010118

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1052421947

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/10920231


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162 https://www.grid.ac/institutes/grid.14709.3b schema:alternateName McGill University
163 schema:name Department of Biochemistry, McGill University, Montreal, Quebec, H3G 1Y6, Canada, CA
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165 https://www.grid.ac/institutes/grid.17063.33 schema:alternateName University of Toronto
166 schema:name Program in Genetics and Genomic Biology, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, Canada, CA
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