 | Figure 2
Nature Genetics
35, 247 - 251 (2003)
Published online: 5 October 2003; | doi:10.1038/ng1250
Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selectionSjoerd Repping, Helen Skaletsky, Laura Brown, Saskia K M van Daalen, Cindy M Korver, Tatyana Pyntikova, Tomoko Kuroda-Kawaguchi, Jan W A de Vries, Robert D Oates, Sherman Silber, Fulco van der Veen, David C Page
& Steve Rozen | | | | Figure 2. The b1/b3 deletion.
(a) The AZFc region of the Y chromosome, as in Figure 1a. The blue arch highlights the b1 and b3 amplicons, which demarcate the deleted region. Positions of STSs used to detect this deletion are indicated immediately below the central bar. Shown further below are hybridization sites for FISH probes, as in Figure 1a. (b) Model of homologous recombination generating the b1/b3 deletion. The blue shaded box highlights the recombination targets. Recombination could be between sister chromatids or within a chromatid. (c) FISH of interphase nuclei from a man (WHT3453) with STSs results suggesting a b1/b3 deletion: he lacked sY1161, sY1197, sY1191 and sY1291 but possessed sY142, sY1258, sY1206 and sY1201. Hybridizations produced the patterns expected for a b1/b3-deleted chromosome (green-red-green and yellow-red-yellow). (In the case of a gr/gr deletion, the red and yellow probes would instead have produced the pattern red-yellow, as in Figure 1.)
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