Recent advances in genetic mapping and gene targeting have facilitated the identification of molecular defects for several classic mouse mutants (for example, Balling et al. 1988;D'Arcangelo et al. 1995;Nehls et al. 1994). Two interesting mouse mutants that still await molecular identification are hop and hpy. These are allelic variants (Handel et al. 1985), designated hop (hop-sterile) and hop hpy (hydrocephalic-polydactyl), of a gene localized on mouse Chromosome (Chr) 6 at 13.0 cM (Lyon 1973). Hop hpy was found in 1964 among descendants of mice exposed to ionizing radiation (Hollander 1976), while hop was identified in 1967 as a spontaneous mutation (Johnson and Hunt 1971). The affected tissues are skeleton, brain, and testes. Mutants show preaxial polydactyly. Homozygous animals develop a non-obstructive hydrocephalus with an extensive damage of ependymal cells (Bryan et al. 1977). In addition, the mutants exhibit the characteristic ''hopping'' gait, using the hind legs simultaneously (Johnson and Hunt 1971). Male mutant homozygotes are sterile, whereas female are fertile. In the testis, defective spermatid tail formation has been described, and sperm with tails are absent from the lumen of the testicular tubules. The second meiotic division can be incomplete, resulting in the presence of binucleate spermatids (Johnson and Hunt 1971).Braf, a member of the mammalian Raf family of serine/ threonine kinases (Daum et al. 1994), has been mapped to Chr 6 at 15.5 cM, i.e., in the vicinity of hop. The highest levels of Braf expression are observed in the central nervous system and in the testes (Barnier et al. 1995;Storm et al. 1990). In the central nervous system, BRAF is detected as several protein species of different molecular weights, indicating complex control of its expression and splicing (Barnier et al. 1995). In the testis, expression of Braf undergoes similarly tight spatial and temporal control. Braf expression is restricted to germ line cells with a 4.0-kbp transcript first expressed at low levels in pachytene spermatocytes, and a more abundant 2.6-kbp transcript restricted to post-meiotic spermatids (Wadewitz et al. 1993). In comparison with brain and testes, other tissues exhibit much lower levels of Braf expression (Barnier et al. 1995;Storm et al. 1990). Since the major sites of Braf expression (that is, brain and the germ cells of the testes) are the affected tissues in hop mutants, we set out to determine whether Braf function is altered in hop or hop hpy mice.Total RNA isolated from frozen testes of hop +/? (wild type or unaffected heterozygote), hop/+, hop/hop and hop/hop hpy mice was analyzed on Northern blots with a Braf-specific cDNA probe. The physiological Braf transcripts (2.6 and 4.0 kbp) were detected in all samples analyzed, and no aberrant Braf transcripts were found in the mutant testes (Fig. 1A). To quantitate the Braf expression levels, all data were digitized and analyzed with NIH Image. The variation in the expression levels of Braf transcripts among the samples did not exceed 10%,...
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