Dispersity of repeat DNA sequences in Oncopeltus fasciatus, an organism with diffuse centromeres.
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Biomedical subjects
Publications and source records attributed to C D Laird.
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Under normal conditions of DNA renaturation, about 60 percent of mouse DNA fragments renature at a rate consistent with their being present only once per sperm. These nonrepeated sequences (also called single-copy or unique) may be used in RNA-DNA hybridization experiments to provide quantitative estimates of RNA diversity. About 10 percent of the mouse single-copy sequences are transcribed in mouse brain tissue. Estimates of about 3 percent were obtained for mouse liver and kidney RNA's. If only one of the complementary DNA strands is transcribed, this hybridization value implies that the equivalent of at least 300,000 different sequences of 1000 nucleotides are expressed in mouse brain tissue. It is suggested that the large amount of DNA in mammals is functionally important, and that a substantial proportion of the genome is expressed in the brain.
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We summarize our proposal that "intercalary heterochromatin" of Drosophila is a useful model for human fragile sites. Comparison with Drosophila site 11A suggests that the normal allele of fragile site Xq27 is a meiotic pairing site.
I discuss two aspects of my proposal that fra(X) chromosomes exist in two states, imprinted and non-imprinted: why do males not imprint the fra(X); does the "Sherman paradox" rule out my proposal?
Although most males with the fragile-X [fra(X)] syndrome do not reproduce, there are 2 published pedigrees that include affected males who have daughters and who thus appear to have transmitted the fragile-X chromosome to their progeny. In addition, one published fra(X) pedigree includes an apparently normal male who expresses cytogenetically the fra(X) site at high frequency and who has 3 daughters. In the 6 daughters of these 3 males, there is little or no cytogenetic expression of the fra(X). I interpret these pedigrees within the context of my X-inactivation imprinting model of the fra(X) syndrome (Genetics 117:587-599): the cytogenetic manifestation of the imprinted state of the mutant fra(X) chromosome [high percentage of cytogenetic expression] is no longer present in daughters of imprinted males. I propose that the imprinted state is erased when an imprinted fragile-X chromosome is passed through a male. Such erasure in the gender opposite to the gender that established the imprint is in accord with other examples of chromosome imprinting in mammals. Additional data from unpublished fra(X) pedigrees are requested.
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