Recombination and Gene Flux Caused by Gene Conversion and Crossing Over in Inversion Heterokaryotypes

A theoretical analysis of the effects of inversions on recombination and gene flux between arrangements caused by gene conversion and crossing over was carried out. Two different mathematical models of recombination were used: the Poisson model (without interference) and the Counting model (with interference). The main results are as follows. (1) Recombination and gene flux are highly site-dependent both inside and outside the inverted regions. (2) Crossing over overwhelms gene conversion as a cause of gene flux in large inversions, while conversion becomes relatively significant in short inversions and in regions around the breakpoints. (3) Under the Counting model the recombination rate between two markers depends strongly on the position of the markers along the inverted segment. Two equally spaced markers in the central part of the inverted segment have less recombination than if they are in a more extreme position. (4) Inversions affect recombination rates in the uninverted regions of the chromosome. Recombination increases in the distal segment and decreases in the proximal segment. These results provide an explanation for a number of observations reported in the literature. Because inversions are ubiquitous in the evolutionary history of many Drosophila species, the effects of inversions on recombination are expected to influence DNA variation patterns.

Mapping by transposons of the inversion termini in Escherichia coli K-12 strain 1485IN.

Strain 1485IN carries a chromosomal inversion which corresponds to 35% of the chromosome and includes proC, trp and his genes. The termini of the inversion lie between the lac and proC loci and between his and cdd of the normal strain. Using Tn10 and Tn5 in transduction crosses between the normal and inversion strains, the termini were mapped to sites located approximately 0.25 min and 1.6 min away from proC and his, respectively within a region of roughly 4 kb long. The crosses where the normal strains carrying Tn10 near the terminus are donors and the inversion strain is a recipient, yielded unusual Tetr His- recombinants, which arose from illegitimate recombination leading to the replacement of a chromosomal his+ region with a transducing fragment carrying proC. Another rearrangement was detected between the normal and inversion strains in a region outside the inverted segment near the cdd locus.

AN INTERSTITIAL PERICENTRIC INVERSION IN NEUROSPORA

In ln(IL; IR)OY323 of Neurospora crassa, a long central segment of linkage group I is inverted that includes the centromere. This is the first interstitial pericentric inversion to be identified in a fungus. In genetic and cytological behavior, it resembles chromosome inversions in higher eukaryotes. In crosses heterozygous for the OY323 inversion, normally distant markers are closely linked, while in homozygous inversion crosses the gene order is reversed, but recombination is approximately normal within the inverted segment. A characteristic inversion loop may form at pachytene in heterozygous crosses; frequently, segments distal to the breakpoints do not pair, however. Rearrangement breakpoints were mapped precisely by duplication coverage using appropriate recessive markers in crosses of OY323 with a partially overlapping inversion, In(IL→IR)NM176.

CHROMOSOMAL POLYMORPHISMS OF CONSTITUTIVE HETEROCHROMATIN AND INVERSIONS IN DROSOPHILA

ABSTRACT A simple technique for preparing mitotic metaphases from a larval ganglion of Drosophila is described. Parallel examination of polytene and metaphase chromosome groups shows that inversion polymorphism in chromosome 3 of D. recticilia from East Maui (Hawaii) manifests a one-to-one correlation with a metaphase karyotype polymorphism due to the presence of an extra heterochromatic portion. These observations are consistent with the previous findings on other species of Hawaiian Drosophila. They strongly support the hypothesis that when one breakpoint of a long inverted segment of a chromosome element occurs in the vicinity of the constitutive heterochromatin, it may exert an effect in eliciting the production of heterochromatic material in the same chromosome.

Probability of identical monomorphism in related species

SUMMARYA mathematical method for evaluating the probability that a locus is monomorphic for the same allele in related species is developed under the neutral mutation hypothesis. A formula for the proportion of identically monomorphic loci in related species is also worked out. The results of the application of this method to Drosophila data do not support Prakash & Lewontin's (1968) contention that the strong association between gene arrangements (inversion chromosomes) and alleles at protein loci is evidence of coadaptation of genes in the inverted segment of chromosomes. Similarly, unlike Haigh & Maynard Smith's (1972) contention, the monomorphism of the haemoglobin α chain locus in man can be accommodated with the neutral mutation hypothesis without invoking the bottleneck effect.