From the point of view of evolution, repeats (Rp) are the most important category of structural changes, and are assumed to provide a mechanism for the evolution of genes with new functions. An estimation of the frequency with which Rp's occur and an attempt at an understanding of the mechanism by which they originate are therefore undertaken. Rp, a type of duplication where a segment of one chromatid is inserted next to its homologous segment in the sister chromatid, are induced by x rays at a very low frequency and some chemical mutagens are capable of inducing Rp's with a high frequency. Attempts were made to deduce the mechanism responsible for the origin of Rp's from a cytological study of different types of Rp and their relative frequencies, based on x-ray and formaldehyde-induced Rp's in Drosophila melanogaster. Four types of Rp were found during cytological analysis of the effects of formaldehyde food, and all can be explained by a mechanism which requires two breaks in a still undivided chromosome; after splitting of the chromosome, these breaks result in two pairs of isochromatid breaks. Depending on the type and the number of new rejoinings, different types of Rp are formed. Allmore » of them are accompanied by the same complementary deficiencies (Df). In order to result in a Rp with complementary Df, the breaks have to fulfill special conditions. They have to be available for reunion at a time when sister chromatids are closely apposed to each other, and they must affect both chromatids at the same level. For the latter condition to arise from hits'' on the already separated chromatids would require a highly improbable coincidence, especially for a chemical mutagen. On the other hand, it would follow automatically from a previous hit on the still unsplit chromosome, if the broken ends remained available until chromatid separation. Observations on x-irradiated chromosomes show that such a delay in reunion is rare, at least for x-ray-induced breaks. Although breaks induced in spermatozoa of Drosophila remain available until after fertilization, they then rejoin quickly and ususlly before chromosome splitting, as shown by the rarity of chromatid changes, in particular of Rp's. This applies equally well to x-ray-induced breaks in premeiotic chromosomes, which hardly ever persist long enough to give Rp's a meiotic prophase. The frequency with which Rp's rise de novo without treatment is not known. In Drosophila, it is very low, but Rp's are detected only when accompanied by a dominant visible effect, e.g., duplication Bar in D. melanogaster. X rays are capable of producing Rp's but with a very low frequency (2-6.5% of all changes) compared with other structural changes induced simultaneously by the same treatment. Chemical mutagens, on the other hand, produce Rp's with a much higher frequency than other kinds of structural change. The relative frequencies of formaldehyde-induced types of change are as follows: Rp's 35.3%, Df's 25.0%, translocations 17.7%, inversions 17.7%, other changes 4.3% of all changes. It is concluded that most or all repeats arise from actual chromosome breaks, which subsequently give rise to sister chromatid breakage followed by new rejoinings. A proposed model for the origin of repeats suggests that these may arise most readily from chromosome breaks which remain latent (potential) until separation into sister chromatids. This is in excellent agreement with the fact that formaldehyde, which produces mainly potential breaks, yields a high frequency of Rp's, while x rays yield very few. (BBB)« less
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