14 research outputs found

    Forefronts in Nephrology: The molecular basis of renal cystic disease

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    Genetic mapping of 18S ribosomal RNA-related loci to mouse chromosomes 5, 6, 9, 12, 17, 18, 19, and X.

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    The organization of ribosomal RNA genes (rDNA) in the genome of the mouse varies significantly from one strain to another, but has been shown to follow the pattern of clusters of tandem repeats located at chromosome ends, often associated with cytological nucleolus organizer regions. The number of copies of the repeat unit at each locus also varies. A probe for the 18S ribosomal RNA sequence on Southern blots reveals both high copy number bands and fainter bands indicative of low repeat number. We have mapped a number of newly identified low-copy-number rDNA loci in C57BL/6J, in addition to placing some of the NOR-associated rDNA repeats on the Jackson interspecific backcross (BSS) map. We suggest that additional low-copy-number loci may remain to be mapped, and that the evolution of rDNA loci in the genome may include the proliferation of single copies by retroinsertion or other mechanisms

    Identification and genetic mapping of a new polycystic kidney disease on mouse chromosome 8.

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    We report here a new mouse mutation, kat, that causes pleiotropic effects including facial dysmorphism, dwarfing, male sterility, anemia, and progressive polycystic kidney disease. kat (kidney anemia and testis) and a second allele, kat2J, that occurred on C57BL/ 6J were mapped to mouse chromosome (Chr) 8 using intra- and intersubspecific intercrosses. A high-resolution map for kat2J on Chr 8 was constructed using the F2 progeny from a cross between C57BL/6J-kat2J/+ and an inbred strain of Mus musculus castaneus (CAST/Ei). The kat2J mutation was localized between D8Mit129 and D8Mit128 with the gene order centromere-D8Mit100-(1.2 +/- 0.26 cM)-D8Mit231-(0.17 +/- 0.09 cM)-D8Mit129-(0.28 +/- 0.12 cM)-D8Mit128-(0.98 +/- 0.23 cM)-D8Mit25/D8Mit8. This segment is homologous to human Chr 19p. The two mutations at this locus that have occurred at The Jackson Laboratory will be invaluable for positional cloning and subsequent functional analysis of the mutated gene
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