The insulin 1, but not the insulin 2, locus is polymorphic (i.e., exhibits allelic variation) in rats. Restriction enzyme analysis and hybridization studies showed that the polymorphic region is 2.2 kilobases upstream of the insulin 1 coding region and is due to the presence or absence of an approximately 2.7-kilobase repeated DNA element. DNA sequence determination showed that this DNA element is a member of a long interspersed repeated DNA family (LINE) that is highly repeated (>50,000 copies) and highly transcribed in the rat. Although the presence or absence of LINE sequences at the insulin 1 locus occurs in both the homozygous and heterozygous states, LINE-containing insulin 1 alleles are more prevalent in the rat population than are alleles without LINEs. Restriction enzyme analysis of the LINE-containing alleles indicated that at least two versions of the LINE sequence may be present at the insulin 1 locus in different rats. Either repeated transposition of LINE sequences or gene conversion between the resident insulin 1 LINE and other LINE sequences in the genome are possible explanations for this.About one-third of various mammalian genomes is composed of families of repeated DNA sequences (4, 32). A major portion of this DNA is highly repeated (i.e., >20,000 copies per family) and is interspersed among nonrepeated DNA (7). Two classes of interspersed repeat DNA families have been identified, based on the length of the repeated element. Short interspersed repeated DNA families contain 100-to 300-base-pair (bp) repeat elements (12,28,32), whereas long interspersed repeated DNA families (LINE family) consist of elements that are quite complex and at least several kilobase pairs long (1,9,10,16,20,21,30,32,33).About one-third of the rat genome also is repeated DNA (25). This fraction is dominated by several highly repeated short interspersed repeated DNA families and at least one LINE family, as is the case for other mammalian genomes (42). These families, which did not reanneal as highly repeated DNA (25), are highly transcribed in the rat (42).Whatever their function, repeated DNA sequences may affect contiguous DNA sequences. These include effects on gene activity due to regulatory elements in the repeated DNA (28), as well as deletion, duplication, inversion, and translocation of the contiguous DNA sequences by homologous recombination between the resident repeated DNA sequence and other members of the repeat family in the genome. Such repeat DNA-mediated events are not just theoretical possibilities. One type of familial hypercholesteremia in humans, for example, is due to deletion of part of the gene for a lipoprotein receptor by recombination between two members of the human Alu short interspersed repeated DNA family (14).It recently was shown (8) that two single-copy DNA loci of rats are polymorphic due to the presence or absence of a full-length (-6.5-kilobase [kb]) member of the rat LINE family: the Igh locus and the Mlvi-2 locus, which is a site for the integration of Moloney leukemia virus (38)...