A Robertsonian translocation in the mouse between the X chromosome and chromosome 2 is described. The male and female carriers of the Rb(X.2)2Ad were fertile. A homozygous/hemizygous line was maintained. The influence of the X-autosomal Robertsonian translocation on anaphase I non-disjunction in male mice was studied by chromosome counts in cells at metaphase II of meoisis and by assessment of aneuploid progeny. The results conclusively show that the inclusion of Rb2Ad in the male genome induces non-disjunction at the first meoitic division. In second metaphase cells the frequency of sex-chromosomal aneuploidy was 10·8%, and secondary spermatocytes containing two or no sex chromosome were equally frequent. The Rb2Ad males sired 3·9% sex-chromosome aneuploid progeny. The difference in aneuploidy frequencies in the germ cells and among the progeny suggests that the viability of XO and XXY individuals is reduced. The pairing configurations of chromosomes 2, Rb2Ad and Y were studied during meiotic prophase by light and electron microscopy. Trivalent pairing was seen in all well spread nuclei. Complete pairing of the acrocentric autosome 2 with the corresponding segment of the Rb2Ad chromosome was only seen in 3·2% of the cells analysed in the electron microscope. The pairing between the X and the Y chromosome in the Rb2Ad males corresponded to that in males with normal karyotype. Reasons for sex-chromosomal non-disjunction despite the normal pairing pattern between the sex chromosomes may be seen in the terminal chiasma location coupled with the asynchronous separation of the sex chromosomes and the autosomes. The Rb2Ad chromosome can be useful for studies of X inactivation, as a marker for parental derivation of the X chromosome and for mapping loci by in situ hybridization.

The study reported here is an examination of the organization and evolution of three Y chromosomal repeated sequences, designated pBC10–0.6, pBC15–1.1, and pBA33–1.8, in five closely related species of the genus Mus. The species distributions of major restriction fragment length polymorphisms produced with a panel of restriction enzymes is used to develop the phylogenetic relationships between the five species studied. However, the apparent degree of relatedness among these species varied a great deal with each of the three probes and was also highly dependent on the particular restriction enzyme used. The usefulness for phylogenetic studies of closely associated sequences varying in evolutionary stability is discussed.

Twenty-six strains of mice were tested for their reaction to four different sweet substances; saccharin, acesulfame, dulcin and sucrose. There was considerable strain variation in the degree to which they found the sweet substances preferable to water. The variation in preference for any one sweet substance is very highly correlated with the variation in preference for the other sweet substances. This is interpreted to mean that there is only one sweetness receptor, although an alternative explanation in terms of variation in psychological motivation is not discounted. The difference between C57BL/6Ty and DBA/2Ty is largely due to a single gene, Sac.

Eight mouse mutants with altered charge or activity of lactate dehydrogenase-1 have been detected in offspring derived from mutagen-treated spermatogonia. Using two chromosome-7 marker genes pooled recombination frequencies are estimated as c−14·4±0·8−p−6·9±0·6−Ldh-1.

Nine enzyme activity variants of liver/erythrocyte pyruvate kinase have been found amongst laboratory and wild mice. Four of these variants have been shown by biochemical and immunological criteria to be mutations of the structural gene, Pk-1s. These four structural gene mutations, and two regulatory gene mutations, define the gene complex, [Pk-1]. One allele of the structural gene, Pk-1sl, found in the inbred strain C57BL, has an unusual phenotype and affects the expression of pyruvate kinase in the liver but not erythrocyte. A possible mechanism for this tissue-specific structural gene mutation is suggested.

Experimentally produced monozygotic twins, natural opposite sex blood chimeras (freemartins), and several pedigrees were used to evaluate the genetic influences on the nucleolus organizer region (NOR) patterns in cattle. In monozygotic twins, the NOR patterns of both twins are extremely similar. In chimeras, NOR patterns of genetically identical, peripheral blood lymphocytes (PBL) from the two partners resemble each other. In contrast, genetically different PBL (sib organ) differ significantly in the same environment. A high heritability of the individual NOR patterns is also demonstrated in our 23 pedigrees. In conclusion, our data demonstrate that variation in NOR expression is predominantly due to genetic factors.

Inbreeding experiments in Drosophila, particularly those carried out using the ‘balancer equilibration’ technique, have revealed high levels of inbreeding depression. It has been estimated that non-lethal chromosomes have a fitness of 20% or less in homozygous condition compared to chromosome heterozygotes. Deleterious recessive genes are, in principle, capable of explaining such inbreeding depression. In this paper we have asked quantitatively whether the observed high levels are consistent with what is known about numbers of loci and mutation rates. We find that accepted mutation rates are easily high enough, provided that the deleterious genes are fully recessive. Partial dominance, even to the extent of 10% or less, reverses this conclusion. These calculations have been made assuming the multiplicative model. However the arguments are potentially sensitive to certain types of selective interactions, and a model which proposes quadratic gene interaction allows for higher levels of partial dominance. We also test the effect of taking into account a further constraint. Crow and Mukai have argued from estimates of the persistence of new deleterious mutations affecting viability that heterozygotes have a reduction in fitness of around 1–2% per locus, similar to the estimate for lethal genes. Application of this additional constraint would markedly reduce the range of permissible selection coefficients. However we argue that the selective disadvantages in heterozygotes of most mutations affecting fitness are unlikely to be as high as estimated for mutations affecting viability.

High levels of chromosomal heterosis have previously been detected in Drosophila using the balancer chromosome equilibration (BE) technique, in which single wild-type chromosomes are introduced into population cages along with a dominant/lethal balancer chromosome. The balancer chromosome is rarely eliminated in such populations, showing that the fitness of chromosome homozygotes must be low by comparison with chromosomal heterozygotes. As with all cases of chromosomal heterosis, the underlying cause could either be deleterious recessives at various loci or generalized overdominance. The experiment of the present paper examines the first of these explanations. Population cages containing just two wild-type chromosomes (dichromosomal populations) were set up and allowed to run for many generations. Single chromosomes were then re-extracted from these populations, and their fitness measured using the BE technique. Our expectation was that the gradual elimination of recessive genes from the dichromosomal populations ought to result in an increase in the fitness of such re-extracted chromosome homozygotes. Yet in two replicated experiments we were unable to demonstrate an; unequivocal increase in fitness. We have estimated the rate of increase of fitness under multiple locus dominance and partial dominance models. The principal unknown parameter in these calculations is the selection intensity per locus, s. The expected increase is approximately proportional to s, and we estimate that values of s around 1/64 should be detectable in our experiments. However linkage is expected to reduce the efficiency of the dichromosomal procedure We show by computer simulation that this reduction is by a factor of approximately 2, thus increasing the detectable level of s to approximately 1/32. Consideration of mutation-selection balance models shows that this is a feasible selection intensity only if dominance is nearly complete. Thus we are unable to rule out the notion that the genes responsible for heterosis are maintained by a simple mutation-selection balance, but the experimental results constrain the parameters of such a model to a narrow range.

The mutational load of a multigene family with uniform members was studied by computer simulations. Two models of selection, truncation and exponential fitness, were examined, by using a simple model of gene conversion. It was found that the load is much smaller than the Haldane–Muller prediction under the truncation selection, and that it becomes approximately equal to the value calculated by the formula, nv(1 − q)/(m − nq), where n is the copy number, v is the rate of detrimental mutation per gene copy, m is the truncation point in terms of the number of detrimental genes eliminated, and q is the equilibrium frequency of detrimental mutation. However the equilibrium frequency cannot be analytically obtained. For the exponential fitness model, the load is close to the Haldane–Muller value. When there is no gene conversion, the load becomes larger than the cases with conversion both for the truncation and the exponential fitness models. Thus, gene conversion or other mechanisms that are responsible for contraction–expansion of mutants on chromosomes helps eliminating deleterious mutations occurring in multigene families.