title: The gene encoding protein 4.2 is distinct from the mouse platelet storage pool deficiency mutation pallid.
abstract: Previous studies identified the gene encoding the erythrocyte membrane protein 4.2 (Epb4.2) as a candidate for the mouse mutation pallid (pa); Epb4.2 genetically colocalized near pa on mouse Chromosome 2, and a truncated Epb4.2 transcript was present in tissues derived from pallid mice. We report here evidence that Epb4.2 and pa are not allelic. The pallid cDNA and intron/exon boundaries show no significant variation from the known BALB/c and C57BL/6J Epb4.2 sequence, and normal immunoreactive 72-kDa protein 4.2 is present in pallid tissues. Two recombinations between Epb4.2 and pa were identified in 173 phenotypically mutant (C57BL/6J-pa/pa x Mus castaneus) F2 animals. Northern blotting reveals a truncated Epb4.2 transcript in kidney mRNA from normal wild Mus domesticus (WSB/Ei) mice that comigrates with the pallid Epb4.2 mRNA. As the pa mutation originally arose in a wild M. domesticus mouse, we conclude that the Epb4.2 mRNA characteristic of pallid is a normal polymorphism derived from its wild ancestor and that Epb4.2 and pa are distinct loci.
authors.affiliation: The Jackson Laboratory, Bar Harbor, Maine 04609, USA.
authors.forename: B
authors.initials: B
authors.lastname: Gwynn
authors.forename: C
authors.initials: C
authors.lastname: Korsgren
authors.forename: C M
authors.initials: CM
authors.lastname: Cohen
authors.forename: S L
authors.initials: SL
authors.lastname: Ciciotte
authors.forename: L L
authors.initials: LL
authors.lastname: Peters
mesh_terms: D000818:Animals; D001798:Blood Proteins / Q000235:genetics*; D002874:Chromosome Mapping; D003598:Cytoskeletal Proteins; D006801:Humans; D008565:Membrane Proteins; D051379:Mice; D008807:Mice, Inbred BALB C; D008810:Mice, Inbred C57BL; D009154:Mutation; D010981:Platelet Storage Pool Deficiency / Q000235:genetics*; D014018:Tissue Distribution
chemical_list: D001798:Blood Proteins; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C044791:erythrocyte membrane band 4.2 protein