Ribosomal protein L24 defect in belly spot and tail (Bst), a mouse Minute.
Ribosomal protein mutations, termed Minutes, have been instrumental in studying the coordination of cell and tissue growth in Drosophila. Although abundant in flies, equivalent defects in mammals are relatively unknown. Belly spot and tail (Bst) is a semidominant mouse mutation that disrupts pigmentation, somitogenesis and retinal cell fate determination. Here, we identify Bst as a deletion within the Rpl24 riboprotein gene. Bst significantly impairs Rpl24 splicing and ribosome biogenesis. Bst/+ cells have decreased rates of protein synthesis and proliferation, and are outcompeted by wild-type cells in C57BLKS<-->ROSA26 chimeras. Bacterial artificial chromosome (BAC) and cDNA transgenes correct the mutant phenotypes. Our findings establish Bst as a mouse Minute and provide the first detailed characterization of a mammalian ribosomal protein mutation.
Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
Edward R
ER
Oliver
Thomas L
TL
Saunders
Susan A
SA
Tarlé
Tom
T
Glaser
D000818:Animals; D005347:Fibroblasts / Q000378:metabolism; D051379:Mice / Q000254:growth & development*; D008822:Mice, Transgenic; D009154:Mutation; D012326:RNA Splicing; D012269:Ribosomal Proteins / Q000235:genetics* / Q000378:metabolism; D012270:Ribosomes / Q000235:genetics / Q000378:metabolism; D012868:Skin Abnormalities / Q000235:genetics*; D013623:Tail / Q000002:abnormalities*
D012269:Ribosomal Proteins; C036298:ribosomal protein L24