title: Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation.
abstract: The ribosomal protein S19 (RPS19) is located in the small (40S) subunit and is one of 79 ribosomal proteins. The gene encoding RPS19 is mutated in approximately 25% of patients with Diamond-Blackfan anemia, which is a rare congenital erythroblastopenia. Affected individuals present with decreased numbers or the absence of erythroid precursors in the bone marrow, and associated malformations of various organs are common. We produced C57BL/6J mice with a targeted disruption of murine Rps19 to study its role in erythropoiesis and development. Mice homozygous for the disrupted Rps19 were not identified as early as the blastocyst stage, indicating a lethal effect. In contrast, mice heterozygous for the disrupted Rps19 allele have normal growth and organ development, including that of the hematopoietic system. Our findings indicate that zygotes which are Rps19(-/-) do not form blastocysts, whereas one normal Rps19 allele in C57BL/6J mice is sufficient to maintain normal ribosomal and possibly extraribosomal functions.
authors.affiliation: Department of Genetics and Pathology, The Rudbeck Laboratory, Uppsala University, 751 85 Uppsala, Sweden.
authors.forename: Hans
authors.initials: H
authors.lastname: Matsson
authors.forename: Edward J
authors.initials: EJ
authors.lastname: Davey
authors.forename: Natalia
authors.initials: N
authors.lastname: Draptchinskaia
authors.forename: Isao
authors.initials: I
authors.lastname: Hamaguchi
authors.forename: Andreas
authors.initials: A
authors.lastname: Ooka
authors.forename: Per
authors.initials: P
authors.lastname: Levéen
authors.forename: Erik
authors.initials: E
authors.lastname: Forsberg
authors.forename: Stefan
authors.initials: S
authors.lastname: Karlsson
authors.forename: Niklas
authors.initials: N
authors.lastname: Dahl
mesh_terms: D029503:Anemia, Diamond-Blackfan / Q000235:genetics; D000818:Animals; D001854:Bone Marrow Cells / Q000166:cytology / Q000378:metabolism; D002478:Cells, Cultured; D010064:Embryo Implantation / Q000502:physiology*; D005260:Female; D018390:Gene Targeting; D006801:Humans; D051379:Mice; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D010641:Phenotype; D011247:Pregnancy; D012269:Ribosomal Proteins / Q000235:genetics* / Q000378:metabolism*; D013234:Stem Cells / Q000502:physiology
chemical_list: D012269:Ribosomal Proteins; C040343:ribosomal protein S19