International Mammalian Genome Society

17th International Mouse Genome Conference

9-12 November 2003, Braunschweig, Germany


POSTER 54 - THE JUVENILE SPERMATOGONIAL DEPLETION (JSD) PHENOTYPE IS DUE TO A MUTATION WITHIN A NUCLEOLAR U3 RIBONUCLEOPROTEIN GENE REQUIRED FOR 18S RIBOSOMAL RNA BIOGENESIS

Rohozinski J
Department of Obstetrics and Gynecology

Co-Authors: 1,2) Bishop CE
Institutions: 1) Department of Obstetrics and Gynecology, 2) Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas

The recessive, non-pleiotropic, jsd mutation is characterized by adult male sterility. The testes of male mice homozygous for the mutation undergo a single wave of spermatogenesis after which type A spermatogonial stem cells fail to continue differentiation. Using meiotic mapping we localized jsd to an interval of approximately 0.4cM at 49cM on chromosome 1, between markers D1Mit215 and 257SP6, a distance of 1.5Mb. After extensive sequence analysis of all genes in the critical interval, we identified an uncharacterized gene located within an intron of Facl3 (Fatty-acid-coenzyme A ligase, long-chain 3). In situ RNA hybridization to testis sections from wild-type mice showed that this gene was expressed in the germ line during the early stages of spermatogenesis. Sequencing revealed that a substitution of CTTTTC for GG had occurred specifically in the jsd copy of the gene. The mutation was in the third exon within the open reading frame, resulting in a frame shift and disruption of the putative translation product. Sequencing across this mutation in several laboratory mouse strains confirmed that it was limited to mice carrying the jsd mutation. The peptide sequence does not contain any recognizable motifs, but shares considerable homology with the recently reported yeast protein UTP14 that is part of a pre-rRNA processing complex involved in production of 18S ribosomal RNA. This suggests that the biological defect underlying the jsd phenotype is improper 18s ribosomal processing. We have provisionally termed the gene mUtp14


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