Abstract:
:The phenotype of the autosomal recessive mutation scat includes severe intermittent bleeding, depletion of platelets, and circulating anti-platelet antibodies. In this study, we have mapped the scat mutation to mouse chromosome 8 and shown that the immune component is a secondary consequence of the gene defect. Surprisingly, the phenotype of the scat/scat pups depends on the genotype of the mother. Maternal homozygosity prevents disease transmission; crosses between scat homozygotes produce few affected young, while the expected frequency is generated from normal (+/+) mice bearing scat/scat ovaries. The results suggest a novel method of maternal-fetal interaction that relies neither on transfer of maternal mitochondria nor on parental imprinting. We conclude that contribution from the maternal wild-type allele is required for expression of the scat phenotype in homozygotes.
journal_name
Celljournal_title
Cellauthors
Peters LL,Barker JEdoi
10.1016/0092-8674(93)90301-6subject
Has Abstractpub_date
1993-07-16 00:00:00pages
135-42issue
1eissn
0092-8674issn
1097-4172pii
0092-8674(93)90301-6journal_volume
74pub_type
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