David C. Page The American Journal of Human Genetics

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Presentation transcript:

On Low Expectations Exceeded; or, The Genomic Salvation of the Y Chromosome* David C. Page The American Journal of Human Genetics Volume 74, Issue 3, Pages 399-402 (March 2004) DOI: 10.1086/382659 Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 1 The Y chromosome’s AZFc region, a deletion-prone hall of mirrors (adapted from Kuroda-Kawaguchi et al. [2001] and Repping et al. [2003]). A, Dot plot in which a 4.5-Mb portion of the human Y chromosome, including AZFc, is compared with itself. The base of the plot depicts the organization of amplified segments, or amplicons, including those labeled b1–b4 (blue), g1–g3 (green), and r1–r4 (red). Within the plot, each dot represents a perfect match of 500 bp. Direct repeats appear as horizontal lines, inverted repeats as vertical lines, and palindromes as vertical lines that nearly intersect the baseline. Palindromes P1, P2, and P3 are indicated, as are the direct repeats responsible for the b2/b4 and gr/gr deletions. Within the plot, tinted squares reflect pairs of amplicons with >99.9% identical sequences. Gray diagonal lines mark amplicon boundaries within the plot. Orientation with respect to centromere (cen) and long-arm telomere (qter) is shown. B, The blue arch highlights the regions demarcating the b2/b4 (AZFc) deletion. C, The green arch highlights the regions demarcating the gr/gr deletion. The American Journal of Human Genetics 2004 74, 399-402DOI: (10.1086/382659) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 2 Expression of Stra8 in XX and XY mouse embryonic gonads at 12.5–16.5 d following fertilization (from Menke et al. [2003], where details of this whole-mount in situ hybridization analysis can be found). Gonads are oriented with anterior poles at the top. The American Journal of Human Genetics 2004 74, 399-402DOI: (10.1086/382659) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

David C. Page (courtesy Sam Ogden) The American Journal of Human Genetics 2004 74, 399-402DOI: (10.1086/382659) Copyright © 2004 The American Society of Human Genetics Terms and Conditions