Matings between mice bearing the dominant deletion Thp and mice segregating for the tw73 haplotype failed to produce the expected viable tailless (Thp/tw73) progeny. Histological analysis of litters from Thp / + × + /tw73 matings revealed an abnormal class of embryos which failed to implant normally between days 6·5 and 7·5 of gestation, and were indistinguishable from tw73/tw73 homozygotes. Thp homozygotes displayed a different lethal phenotype, failing to successfully make the transition from morula to blastocyst at day 3·5. These studies indicate that the mutation responsible for the tw73 implantation defect maps within the Thp deletion. Since tw73 is viable with another deletion, Torl, the tw73 defect must occur in the region of non-overlap between Thp and TOrl. The possibility that the tw73-associated implantation defect is a parasitic lethal mutation (p), mapping to the proximal part of the tw73 chromosome, is discussed.

The three major regions (T, tail-determining; A, abnormal transmission ration; L, embryonic lethality) of the t complex on the murine seventeenth chromosome can interact to influence male reproduction (Lyon & Mason, 1977; Hammerberg, 1981). Evidence is presented here that suggests: (1) the presence of a polymorphic system within the T region that influences quasi-sterility in the male; (2) the existence of enhancing factors of transmission ratio distortion; and (3) that preferential interactions between t-haplotypes are found to occur both cis and trans which influence transmission ratio distortion.

The nucleotide sequence data from highly repeated DNAs of inverte-brates and mammals are summarized and briefly discussed. Very similar conclusions can be drawn from the two data bases. Sequence complexities can vary from 2 bp to at least 359 bp in invertebrates and from 3 bp to at least 2350 bp in mammals. The larger sequences may or may not exhibit a substructure. Significant sequence variation occurs for any given repeated array within a species, but the sources of this heterogeneity have not been systematically partitioned. The types of alterations in a basic repeating unit can involve base changes as well as deletions or additions which can vary from 1 bp to at least 98 bp in length. These changes indicate that sequence per se is unlikely to be under significant biological constraints and may sensibly be examined by analogy to Kimura's neutral theory for allelic variation. It is not possible with the present evidence to discriminate between the roles of neutral and selective mechanisms in the evolution of highly repeated DNA.

Tandemly repeated arrays are constantly subjected to cycles of amplification and deletion by mechanisms for which the available data stem largely from ribosomal genes. It is a matter of conjecture whether the solutions to the mechanistic puzzles involved in amplification or rapid redeployment of satellite sequences throughout a genome will necessarily give any insight into biological functions.

The lack of significant somatic effects when the satellite DNA content of a genome is significantly perturbed indicates that the hunt for specific functions at the cellular level is unlikely to prove profitable.

The presence or in some cases the amount of satellite DNA on a chromosome, however, can have significant effects in the germ line. There the data show that localized condensed chromatin, rich in satellite DNA, can have the effect of rendering adjacent euchromatic regions rec−, or of altering levels of recombination on different chromosomes. No data stemming from natural populations however are yet available to tell us if these effects are of adaptive or evolutionary significance.

A computer model of a two-locus genetic system with epistatic selection was used to investigate factors influencing the probability of the origin of reproductive isolation, due to a genetic revolution following a founder event (Mayr, 1954; Carson, 1975). Restricted population size can sometimes cause such a system to drift from one equilibrium to another, which can result in loss of fitness to hybrids with the ancestral population. The chance of such an event was found to be low unless the bottleneck in population size associated with the founder event was preceded by many generations of relaxed selection. It is highest when the bottleneck is not prolonged and when the population size during the bottleneck is not too small. It seems to be difficult to achieve a high degree of reproductive isolation in one step by this method, and it is concluded that it is unlikely to be a major cause of rapid speciation, although it could be a contributory factor.

We have examined the major urinary protein (MUP) phenotype of three inbred mouse strains by one-dimensional isoelectric focusing in acrylamide gels. Each strain gave a distinct pattern of major and minor bands. In the three strains together, seven major and about seven minor bands were observed. F1 phenotypes were intermediate. F2 phenotypes can be explained by recombination between allelic variants at four or more different genetic loci. We propose that variation in MUP phenotype is due in fact, to allelic variation at approximately seven structural gene loci, some of which are linked on chromosome 4. The remainder may or may not be linked to these.

Crosses between various types of mutant giving specific patterns of aberrant segregation were performed in the b2 spore colour locus of Ascobolus immersus. The map of 41 mutations showing various patterns of aberrant segregation was established. The frequency of wild-type recombinants and the map additivity, map expansion and map contraction characteristics were shown to be strongly dependent upon the pattern of aberrant segregation of the mutations used. Mutations giving no postmeiotic segregation and an excess of conversion to wild type over conversion to mutant exhibit map expansion in small intervals and a strong map contraction in large intervals. Mutations giving postmeiotic segregations also exhibit map contraction in large intervals. Mutations giving no postmeiotic segregations and an excess of conversion to mutant over conversion to wild type show map additivity and thus provide a simple way for devising gene maps. The relationship between the mapping properties and the pattern of aberrant segregations is accounted for when considering parameters of gene conversion: frequency and distribution of hybrid DNA, frequency and direction of mismatch correction.

Selection for increased and for decreased expression of the sex-linked gene brindled (Mobr) in heterozygous females produced two lines with non-random X chromosome inactivation. In the High line the X chromosome marked by brindled was active in about 60% of cells, while in the Low line it was active in about 25% of cells. The whole of the difference was caused by the chromosomes carrying brindled: neither the unmarked X chromosome nor the autosomes were differentiated. There was a positive correlation between the expression of brindled in daughters and mothers. This was probably not caused by residual genetic variation, but was more probably a maternal effect similar to that described by Cattanach & Papworth (1981). On this assumption the daughters' scores were adjusted to a standard maternal score. Enzyme assays on females doubly heterozygous for brindled and for the sex-linked Pgk-1 locus proved that the percentage of brindled in the coat provided an accurate measure of the X-inactivation proportions in the blood, liver and kidney. The accuracy was improved by adjustment for maternal score. In the selection lines, brindled was always inherited from the mother. When brindled was transmitted by male parents the probability of activation of its chromosome was increased by 8 percentage points in the High line and 18 in the Low line. This effect of the parental source is much greater than has previously been reported. The responses to selection can be interpreted in terms of the Xce locus controlling the activation probability, different alleles on the chromosomes carrying brindled being selected in the two lines. If this interpretation is correct, the alleles on one or both of the chromosomes carrying brindled were different from any of the three known alleles. The different effects of male transmission in the two lines can be described as a difference between the two chromosomes in their reactions to imprinting. This difference might possibly also be due to the Xce locus.

Seven third chromosome samples from laboratory populations and one from a wild population were classified by their genotypes at five allozyme loci and by the occurrence of lethals. The data were analysed for independence among classifications by a randomization method, and it was found that when the number of classifications is high the independence hypothesis does not hold. We have split the independence hypothesis among populations and have found that the lack of fit to the hypothesis comes mainly from the wild population. As one of our classifications was lethality, these findings seriously question the interpretation of multilocus fitness estimations. To split the independence hypothesis into interactions, the criterion of Bartlett for non-interaction with exact probability methods was used; interactions at the levels of pairs and triplets were not significant as a whole. It was not possible to carry the interaction analysis any further as the frequencies of chromosomal types were completely determined by their marginal totals at orders of interaction higher than that of triplets. Available parametric estimations of these high order interactions are therefore of dubious meaning. The analyses of chromosome samples and the temporal surveys of population cages described here, as well as data from the literature, suggest that the Est 6-Pgm region is prone to show disequilibrium.

The hairs and follicles from mice carrying the naked (N) gene have been examined using both scanning and transmission electron microscopy in addition to light microscopy. Fibre cuticle cells and occasionally cortical cells were absent from the follicles of N / + mice when the base of the hair was growing. In N / N follicles there was a frequent lack of both cuticle and cortical cells throughout the growth phase of the follicles. Abnormalities were also observed in the manner in which the synthesized keratin was deposited in the fibres. The possible mode of action of the N gene is discussed in the light of these results.

Plasmodial formation in the Myxomycete Physarum polycephalum is under heterothallic control by a mating type (mt) locus. In natural isolates only amoebae with different mt alleles are able to cross to form diploid plasmodia. A class of mutants isolated from heterothallic amoebae, together with the variant strain CL, is able to form plasmodia in pure clones, designated as selfing. Non-selfing mutants have been isolated from CL and from other selfing amoebae.

This paper reports the isolation and analysis of 64 non-selfing derivatives (designated Npf−) from seven selfing (Het−) strains. The Npf− mutants could be grouped into eight classes on the basis of their crossing and complementation patterns. The possible significance of these mutants is discussed.

A general model of linked genes or a part of a genome is proposed which enables us to study various problems in molecular population genetics in a unified way. Several formulae with special reference to the linkage disequilibrium and genetic distance are derived for neutral mutations in finite populations, based on the method of diffusion equations. It is argued that the model and formulae are useful particularly when observations are made in terms of DNA sequence.

The proximal breakpoints of the inversion chromosomes In(1)ωm4 and In(1)m51b were shown, by in situ hybridization, to define the boundaries of the ribosomal DNA region located within the X chromosome heterochromatin (Xh). We estimate that at least 95% of the rDNA is located between the In(1)ωm4 and In(1)ωm51b proximal breakpoints. In contrast only 60–70% of the Type I intervening sequences located in Xh are located between these breakpoints. The Type I intervening sequences in the rDNA region occur as inserts in the 28S rRNA sequences while the remainder of the sequences are distal to the In(1)ωm4 breakpoint and not associated with rRNA genes.

The regions of Xh which contain rDNA and Type I intervening sequences were related to regions shown by Cooper (1964) to contribute to meiotic pairing between the X and Y chromosomes in male Drosophila. We demonstrate that the rRNA coding region contributes to X / Y pairing. However, no single region of Xh is required for fidelity of male meiotic pairing of the sex chromosomes.

Spleens with black pigment in them were found in 4–57% of mice from 17 stocks, all sublines of C57BL or with significant C57BL ancestry. Splenic lipofuscinosis was absent from 16 stocks, including three C57BL/6By × BALB/cBy recombinant - inbred lines. Progeny testing showed all C57BL/6J mice to be equally likely to develop black spleens. The penetrance of lipofuscinosis differed between sublines but not between the sexes or between laboratories. Susceptibility to lipofuscinosis showed dominant, autosomal, inheritance in F1 hybrids. Observations on backcrosses and on recombinant inbred lines and their intercrosses indicated the existence of two genetic factors. Splenic lipofuscinosis was prevented either by a deficiency of melanin or by homozygosity for a non-C57BL allele close to the c-p region of chromosome 7. The presence of a C57BL allele at a locus on another chromosome is necessary for lipofuscinosis to occur.

The various lethal t-haplotypes are divided into several complementation groups defined by lethality of tx/ty heterozygotes, and only partial complementation is usually observed in heterozygotes between t complementation groups. Several effects of the t region have been found to be preferentially or exclusively detectable in males. This paper describes results showing that the viability of t6/tw5 heterozygotes is influenced by the sex of the embryo; female viability is only slightly reduced (viability ratio approximately 0·80), while male viability is far below normal (0·25).

In this report we examine the meiotic segregation of compound second autosomes sharing varying extents of heterochromatic and euchromatic homology. The second chromosome heterochromatin does not appear to influence the random meiotic segregation of compound second autosomes during spermatogenesis; however, the proximal euchromatin is implicated in male meiotic pairing. We conclude that male autosomal meiotic pairing sites are specific euchromatic chromosomal regions.

A diploid heteroallelic at the gal1 locus and producing little residual galactokinase activity was chosen. Following either γ- or UV-irradiation, recombination occurred leading to the formation of wild-type GAL1 genes and an increase in detectable galactokinase. An enhanced level of enzyme was first detectable 2 h after irradiation and reached a maximum within 12–14 h. With increasing doses of irradiation, more enzyme was produced and this increase superficially resembled that obtained for plated recombinants. However, far more enzyme was actually synthesized than expected from the number of viable recombinants in the cells assayed. This suggests that recombination must have occurred in cells without colony-forming ability, indeed it may have occurred more frequently in these cells than in viable cells.

The isolation of a temperature sensitive pts I mutant which fails to utilize lactose provides strong evidence that Klebsiella strain CT-1 utilizes lactose via a phosphoenolpyruvate dependent lactose-phosphotransferase system (PTS-lac). We designate this lactose utilization system elu for evolved lactose utilization. Analysis of a series of Lac− mutants identifies two genes, eluA and eluB, whose function is required for lactose utilization by this pathway. The functions specified by these genes are not known, but neither locus specifies the hydrolytic enzyme phospho-β-galactosidase. A mutant of CT-1, strain RPD-2, exhibits a half-maximal growth rate at a lactose concentration 40 fold lower than that of strain CT-1; and it has a Km for lactose uptake that is 40 fold lower than that of strain CT-1. That mutation defines the locus eluC, which is assumed to specify the enzyme Il(lac) of the PTS-lactose system. From the observations that (i) cellobiose induces the phospho-β-galactosidase enzyme, (ii) pregrowth in cellobiose dramatically reduces the growth lag when cells are shifted into lactose minimal medium, (iii) eluB mutants exhibit a growth lag when shifted into cellobiose minimal medium, and (iv) lactose induces a phospho-β-glucosidase enzyme; we speculate that the phospho-β-glucosidase enzyme is the same enzyme as the phospho-β-glucosidase that normally functions in cellobiose metabolism. We conclude that the original mutation that allowed CT-1 to utilize lactose was a regulatory mutation that permitted inducible expression of the eluC gene.

Arginine-requiring mutants of Neurospora crassa were isolated using a strain partially impaired in an enzyme of the arginine pathway (bradytroph). Among these, five strains were found which carry mutations at a new locus, cpc-1+. The recessive cpc-1 alleles interfere with the cross-pathway control of amino acid biosynthetic enzymes. The enzymes studied, three of arginine and one each of histidine and lysine biosynthesis, fail to derepress under conditions which normally result in elevation of enzyme concentration, namely arginine, histidine or tryptophan limitation. Enzymes not involved in amino acid biosynthesis are still able to derepress in the presence of cpc-1. In wild-type backgound, i.e. with the bradytroph replaced, cpc-1 strains lose the original arginine-requirement. cpc-1 mutations confer sensitivity of growth to 3-amino-1,2,4-triazole.

Rice, Cloninger & Reich (1980) showed that correlational data on American I.Q. is consistent with a rather low genetic heritability. Here we confirm their general results with a more parsimonious model. From phenotypic data alone, the estimates of genetic and cultural heritability are 0·31 and 0·42, respectively. Using environmental indices, the parsimonious estimates become 0·34 and 0·26, respectively.