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Hermansky-Pudlak syndrome (HPS) consists of oculocutaneous albinism, a platelet storage pool deficiency, and ceroid lipofuscinosis. HPS is common in northwest Puerto Rico, where affected individuals are homozygous for a 16-bp duplication in the gene HPS. Two other homozygous frameshift mutations in HPS were previously identified among non-Puerto Rican patients. Eighteen non-Puerto Rican HPS families were studied and HPS mutations in three of them identified. One mutation, T322insC, has been previously described. However, three additional mutations, E133X, T322delC, and S396delC, have not been reported. Two families exhibited compound heterozygosity for these mutations, although most previously reported HPS patients have been homozygous for a particular mutation. All the newly described mutations were associated with decreased or undetectable levels of HPS RNA by Northern blot analysis of fibroblasts, and all had significant pigment dilution. To date, all mutations in HPS result in a truncated protein, suggesting that the C-terminal portion of the HPS protein is functionally important., (Copyright 1998 Academic Press.)

Male rats exhibit maternal behavior prepuberally and in adulthood, but the neural mechanisms and the ability of males to respond to hormones that stimulate maternal aggression (following arousal of maternal behavior) in females have not been studies. In Experiment 1, males were exposed to pups to stimulate maternal behavior (sensitization) after either radiofrequency lesions of the MPOA or sham lesions with nonactivated electrodes that penetrated the MPOA. Nonsurgical males served as a CONTROL group. The LESION male group showed severe deficits in all components of maternal behavior compared to the latter two groups that showed no behavioral deficits. Females in the LESION group and those given SHAM 1 lesions (produced by electrodes without current introduced into the MPOA) also showed severe deficits in maternal behavior compared to SHAM 2 females (electrode lowered to above the MPOA without current) and nonsurgical CONTROL females. In Experiment 2, prolonged estradiol (E2), progesterone (P) treatment followed by an injection of either 20 micrograms or 100 micrograms/ kg estradiol benzoate (EB) or oil in castrated males was effective in stimulating short-latency maternal behavior, mainly in the 100 micrograms/kg EB group. Males of this group also showed a high level of maternal aggression that was inversely correlated with their latencies for maternal behavior. All groups showed maternal aggression when maternal behavior was established. The results indicate the MPOA mediates maternal behavior in males as it does in females; maternal aggression in males accompanies the stimulation of maternal behavior and may be stimulated by the same hormones.

The cystinosis gene has been reported to reside in a 3.1 cM region of chromosome 17p13 flanked by markers D17S1828 and D17S1798. We created a yeast artificial chromosome (YAC) contig between these markers and report here an integrated genetic and physical map which will aid in the identification of other genes in this area. Using one pertinent YAC clone, 898A10, we identified new polymorphic markers in the cystinosis gene region. One such marker, D17S2167, was localized by radiation hybrid analysis to within 10.2 cR8000 of D17S1828. Haplotype analysis in two separate informative families revealed recombination events which placed the cystinosis gene between markers D17S1828 and D17S2167, an area estimated to be 187-510 kb in size. This dramatic narrowing of the cystinosis gene region permits the creation of a P1 or cosmid contig across the area of interest. The ultimate cloning of the cystinosis gene should eventually reveal how a functional lysosomal transport protein is synthesized, targetted, processed, and integrated into the lysosomal membrane.