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A transgenic mouse model for human hereditary neuropathy with liability to pressure palsies.

Mutations in the gene encoding peripheral myelin protein 22 (PMP22) account for several inherited peripheral neuropathies in humans. We now show that transgenic mice expressing antisense PMP22 RNA exhibit modestly reduced levels of PMP22 together with a phenotype that is reminiscent of hereditary neuropathy with liability to pressure palsies (HNPP), a human disease caused by a 1.5-Mb deletion of a chromosome 17 region that contains the PMP22 gene. Transgenic antisense homozygotes display a striking movement disorder and a slowing of nerve conduction that worsens with age. Morphological analysis of peripheral nerves demonstrates that a subset of axons have thickened myelin sheaths and tomacula in young adults, with significant myelin degeneration detected in older animals. Together with other recent work, these data suggest that dosage of the PMP22 gene alone underlies the pathophysiology observed in HNPP and related disorders.

Animals↗

Psychophysiologic test performance in normal twins and in a pair of identical twins with essential tremor that is suppressed by alcohol.

In a sample of 52 adults male twin pairs (26 MZ, 26DZ) performance in a series of psychophysiologic tests was measured. The intraindividual variability was determined by repetitive tests in the same subjects. In a number of cases the measured parameters proved relatively stable within the same peron; identical twins, however, were no more similar to one another than fraternal twins. In a pair of identical twins with autosomal-dominant essential tremor the degree of the tremor could be effectively reduced by alcohol application.

Adult↗

The Maudsley reactive and nonreactive strains of rats: a clarification.

The origin of the Maudsley reactive and nonreactive strains of rats and the construction of the survey of researches using them are briefly reviewed in the light of Archer's criticisms. The reasons for reasserting that they represent a valid dichotomy in emotionality are summarized.

Animals↗

Genetic Tobit factor analysis: quantitative genetic modeling with censored data.

Parameters of quantitative genetic models have traditionally been estimated by either algebraic manipulation of familial correlations (or familial mean squares), biometric model fitting, or multiple-group covariance structure analysis. With few exceptions, researchers who have used these methods for the analysis of twin data have assumed that their data were multinormal and, consequently, have used normal-theory estimation methods. It is shown that normal-theory methods produce biased genetic and environmental parameter estimates when data are censored. Specifically, with censored data, (1) normal-theory estimates of narrow-sense heritability are either positively or negatively biased, whereas (2) estimates of shared-familial environmental variance are always biased downward. An alternative method for estimating genetic and environmental parameters from censored twin data is proposed. The method is called genetic Tobit factor analysis (GTFA) and is an extension of the Tobit factor analysis model developed by Muthén (Br. J. Math. Stat. Psychol. 42, 241-250, 1989). Using a Monte Carlo design, the performance of GTFA is compared to traditional quantitative genetic methods in both large and small data sets. The results of this study suggest that GTFA is the preferred method for the genetic modeling of censored data obtained from twins.

Genetics, Behavioral↗

Level and shape of sequences of motor behavior in inbred and hybrid mice.

Three-hundred seventy-five mice of six inbred strains and their F1 hybrid crosses were observed in a barrier apparatus. Frequencies of jumping over barriers were recorded at each of ten 30-sec intervals. Graphs plotted of mean jumps at each time point show several F1 curves with an apparently adaptive pattern: low frequencies of jumps at start, gradually rising, then leveling off. Nine out of 15 F1 curves also show evidence of heterosis: jumping frequencies of hybrids exceed those of parent strains. Lack of heterosis was peculiar to crosses in which C57BL/6 was one of the parents. A coefficient of convexity C was developed to quantify the shapes of the temporal patterns of proportions of animals engaged in jumping at a given point in the sequence. F1 curves (unlike inbred strains) were found, on the whole, to be negatively convex.

Animals↗

Behavioral comparability of wild and domesticated rats.

The oft-repeated concern for the lack of behavioral comparability of domestic rats with wild forms of Rattus norvegicus is unfounded. Laboratory rats appear to show the potential for all wild-type behaviors, including the most dramatic social postures. Moreover, domestics are capable of assuming a feral existence without difficulty, one where they readily behave in a fashion indistinguishable from wild rats. The one behavioral difference that is clearly established concerns performance in laboratory learning paradigms. The superiority of domestics in these laboratory tasks speaks more to quieting the concerns of degeneracy theorists than to problems of using domestic Norway rats as subjects representative of their species.

Animals↗

The Maudsley reactive and nonreactive strains of rats: a survey.

Experiments with two strains of rats, the Maudsley Reactive and Nonreactive, developed in London, England, and which were performed during 1964--1974 by a variety of investigators are summarized in a table. It is concluded that the results support the strains' standing as exemplars of differences in emotional reactivity.

Animals↗

A pair of monozygotic twins discordant for homosexuality: sex-dimorphic behavior and penile volume responses.

In reports of identical twins discordant for homosexuality, the homosexual twins showed the effeminacy syndrome in childhood. This has been considered evidence that the homosexuality comes from the twin himself. The possibility that the heterosexual twin was denying homosexuality has never been excluded. A pair of identical male twins discordant for homosexuality are reported. They showed significant differences in their penile volume responses to moving pictures of male and female nudes indicative of sexual orientations consistent with their statements. The homosexual twin showed the effeminacy syndrome. Aspects of the syndrome can be induced in mammals by altering their hormonal environment during some critical period in their intrauterine development. Discordance for homosexuality in identical twins could be due to one's being exposed to a different hormonal level during such a critical period.

Adult↗

Further considerations for power in sibling interaction models.

Sibling interactions aim to determine whether siblings' phenotype have an impact on one another. We explore the power to detect sibling interaction term in twin models with the inclusion of singletons (only children). Furthermore, we develop the existing work on the improvement of power from the addition of unrelateds (adoptive or step-siblings). We find that singletons are considerably more powerful under cooperative (positive or imitation) than competitive (negative) interaction. Additionally, the power from URs is attenuated when common environment is part of the genetic model.

Algorithms↗