THE GENE ENCODING PROTEIN-4.2 IS DISTINCT FROM THE MOUSE PLATELET STORAGE POOL DEFICIENCY MUTATION PALLID

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 ill tissues derived from pall id mice, We report here evidence that Epb4.2 and pa are not allelic. T he pallid cDNA and intron/exon boundaries show no significant variatio n from the known BALB/c and C57BL/6J Epb4.2 sequence, and normal immun oreactive 72-kDa protein 4.2 is present in pallid tissues. Two recombi nations between Epb4.2 and pa were identified in 173 phenotypically mu tant (C57BL/6J-pa/pa x Mus castaneus) F-2 animals. Northern blotting r eveals a truncated Epb4.2 transcript in kidney mRNA from normal wild M us domesticus (WSB/Ei) mice that comigrates with the pallid Epb4.2 mRN A. 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. (C) 1997 Academic Press.