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Chromosome-Wide Linkage Disequilibrium Caused by an Inversion Polymorphism in the White-Throated Sparrow (Zonotrichia Albicollis)

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Chromosome-Wide Linkage Disequilibrium Caused by an Inversion Polymorphism in the White-Throated Sparrow (Zonotrichia Albicollis) Heredity (2011) 106, 537–546 & 2011 Macmillan Publishers Limited All rights reserved 0018-067X/11 www.nature.com/hdy ORIGINAL ARTICLE Chromosome-wide linkage disequilibrium caused by an inversion polymorphism in the white-throated sparrow (Zonotrichia albicollis) LY Huynh1,2, DL Maney3 and JW Thomas2 1Graduate Program in Population Biology, Ecology and Evolution, Emory University, Atlanta, GA, USA; 2Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA and 3Department of Psychology, Emory University, Atlanta, GA, USA Chromosomal inversions have been of long-standing interest Inside the inversion we found that recombination was to geneticists because they are capable of suppressing completely suppressed between ZAL2 and ZAL2m, resulting recombination and facilitating the formation of adaptive gene in uniformly high levels of genetic differentiation (FST ¼ 0.94), complexes. An exceptional inversion polymorphism (ZAL2m) the formation of two distinct haplotype groups representing in the white-throated sparrow (Zonotrichia albicollis) is linked the alternate chromosome arrangements and extensive to variation in plumage, social behavior and mate choice, and linkage disequilibrium spanning B104 Mb within the inver- is maintained in the population by negative assortative sion, whereas gene flow was not suppressed outside the mating. The ZAL2m polymorphism is a complex inversion inversion. Finally, although ZAL2m homozygotes are exceed- spanning 4100 Mb and has been proposed to be a strong ingly rare in the population, occurring at a frequency of o1%, suppressor of recombination, as well as a potential model for we detected evidence of historical recombination between studying neo-sex chromosome evolution. To quantify and ZAL2m chromosomes inside the inversion, refuting its evaluate these features of the ZAL2m polymorphism, we potential status as a non-recombining autosome. generated sequence from 8 ZAL2m and 16 ZAL2 chromo- Heredity (2011) 106, 537–546; doi:10.1038/hdy.2010.85; somes at 58 loci inside and 4 loci outside the inversion. published online 23 June 2010 Keywords: chromosomal inversion; recombination suppression; linkage disequilibrium Introduction absence of positive epistasis, if it simply captures two or more locally adapted alleles. Because inversions Chromosomal inversions are known to occur in a wide suppress recombination, linkage disequilibrium (LD) variety of organisms, in which they are associated with between the beneficial alleles within the inversion would instances of adaptive evolution, speciation, selfish genes, be preserved even when the alleles are not in close sex chromosomes, human disease and disease suscept- proximity to each other. Thus, the influence of inversions ibility (Hartl, 1975; Lahn and Page, 1999; Noor et al., 2001; on the rate and pattern of recombination is fundamental Hoffmann et al., 2004; Stefansson et al., 2005; Dyer et al., to their adaptive significance and evolution. 2007). Although inversions have been studied for nearly The suppression of recombination between the alter- a century, only recently have researchers begun to native chromosomal arrangements along the inverted elucidate their effects on patterns of molecular evolution. segment will eventually lead to the formation of two Their influence on sequence evolution is derived from distinct haplotype groups: the standard and the inverted. their unique ability to suppress recombination within the However, population genetic studies in Drosophila, in inverted interval in individuals heterozygous for the which inversions have been most intensely studied, have inversion (Sturtevant, 1921; Sturtevant and Beadle, 1936). found that genetic differentiation is non-uniform across Dobzhansky (1937, 1950) proposed that natural selection an inversion and that gene flow usually does occur would favor inversions if they captured a set of between the standard and inverted chromosomes inside positively interacting alleles, which he referred to as a the inversion (Novitski and Braver, 1954; Hasson ‘supergene’ complex (Dobzhansky and Sturtevant, 1938). and Eanes, 1996; Schaeffer et al., 2003; Schaeffer and Alternatively, Kirkpatrick and Barton (2006) showed that Anderson, 2005). In these examples, genetic differentia- an inversion can enhance the fitness of its carrier, in the tion is typically highest near the inversion breakpoints. Double recombination events or gene conversion mediated by the formation of an inversion loop between Correspondence: Dr JW Thomas, Department of Human Genetics, Emory the inverted and standard chromosomes will, over time, University School of Medicine, 615 Michael Street, Suite 301, Atlanta, lead to significant gene flow within the inversion GA 30322, USA. E-mail: [email protected] (Navarro et al., 1997; Kovacevic and Schaeffer, 2000; Received 15 February 2010; revised 18 May 2010; accepted 28 May Andolfatto et al., 2001; Schaeffer et al., 2003; Kennington 2010; published online 23 June 2010 et al., 2006). The patterns of gene flux associated with an Population genetics of an inversion in sparrows LY Huynh et al 538 inversion can be particularly useful in identifying the polymorphisms can eventually lead to regions of the targets of selection, which are expected to be in LD with genome in which recombination is rare or never occurs. each other as well as the inversion (see White et al., 2007). Recently, we described the first modern genetic and Thus, the extent and pattern of gene flow associated genomic characterization of a chromosomal polymorph- with simple inversion polymorphisms will be influenced ism in the white-throated sparrow (Zonotrichia albicollis) by the strength of selection to maintain LD, the size of the that is extraordinary in respect to its phenotypic effects inversion, the rate of recombination and the age of the and genetic properties (Thomas et al., 2008). In particular, inversion. the two alternative arrangements of the second chromo- Chromosomal polymorphisms involving more than some, which will be referred to in this study as ZAL2 and one inversion have been found in natural populations ZAL2m, are linked to a plumage polymorphism such that and can be associated with patterns of gene flow that are individuals homozygous for ZAL2 are invariably asso- distinct from the pattern described above for simple ciated with the tan-stripe (TS) morph, whereas indivi- inversions. For example, the mouse t-complex comprises duals of the white-stripe (WS) morph are either four non-overlapping inversions on mouse chromosome heterozygous for the polymorphism (ZAL2/ZAL2m)or 17 and has been studied for decades with respect to its very rarely ZAL2m homozygotes (Thorneycroft, 1966, effect on recombination and association with meiotic 1975). In addition to the genetic association with drive (Lyon, 2003). Although gene conversion and some plumage, the chromosomal polymorphism is linked to rare recombinants have been reported between wild-type variation in social behavior such that WS individuals are, and t chromosomes (Erhart et al., 2002; Wallace and on average, more aggressive and less parental than their Erhart, 2008), strong suppression of recombination same-sex TS counterparts (Tuttle, 2003). WS and TS extends over the length of the t-complex. As a result, individuals occur at similar frequencies in both sexes and genetic differentiation between the t and wild-type show an exceptionally strong negative assortative mating chromosomes is uniformly high across the entire B30– pattern in which 496% of all breeding pairs comprise 40 Mb t-complex (Lyon, 2003). Similarly, the XD chromo- individuals of opposite morphs (Falls and Kopachena, some in Drosophila recens is composed of a complex set of 1994). As a consequence of this breeding pattern, and inversions and is associated with meiotic drive (Dyer perhaps because of reduced viability (Thorneycroft, et al., 2007). The XD completely suppresses recombination 1975), ZAL2m/ZAL2m birds are rare in the population between the XD and its non-distorting homolog, XST, with only a single ZAL2m homozygote having been resulting in dramatic chromosome-wide LD spanning detected in studies that combined karyotyped 4600 B130 cM (Dyer et al., 2007). Unlike the classic model of birds (Thorneycroft, 1975; Romanov et al., 2009). Another gene flow for simple inversions in Drosophila, chromo- consequence of this mating pattern is that ZAL2m is in a somal polymorphisms involving more than one inver- near constant state of heterozygosity maintained at the sion can suppress recombination over the entire length of population level by balancing selection. At the molecular the rearrangement for prolonged periods of time and level, ZAL2m differs from ZAL2 by at least two nested lead to genetically distinct haplotypes associated with inversions that, together, are predicted to span B100 Mb exceptionally large blocks of LD. and encompass B1000 genes (Thomas et al., 2008). Although chromosomal polymorphisms comprising In addition, limited population-based re-sequencing complex inversions can drastically reduce the frequency indicated that recombination was suppressed between of recombination within the rearranged regions in ZAL2 and ZAL2m within the inverted interval and that individuals heterozygous for the polymorphism, normal as a result of this suppression of recombination between recombination levels are expected within the alternative the chromosome types, as well as a paucity of ZAL2m chromosomal rearrangements in individuals homozy- homozygotes, ZAL2m could
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