Supplementary Information for
Yang F, Silber S, Leu NA, Oates RD, Marszalek JD, Skaletsky H, Brown LG, Rozen S, Page DC, Wang PJ
TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse
EMBO Mol Med 7, 1198 (2015)
- Supplementary Figure 1. Alignment of TEX11 protein sequences. Multiple sequence alignment was performed using CLUSTAL 2.0.9.Red font marks residues affected by the five TEX11missense mutations identified ininfertile men.
- Supplementary Figure 2. Analysis of chromosomal synapsis in spermatocytes from 25-day-old wild type and Tex11KI(WT);-Y mice. Surface spread nuclei from spermatocytes were immunostained with anti-SYCP1 and anti-SYCP2 antibodies. Representative imagesof spermatocytes at the pachytene stageare shown. XY chromosomes are indicated. This supplementary figure is related to Figure 3B.
- Supplementary Figure 3. Number of MLH1 foci in spermatocytes from 3-month-old males. Representative images are shown for the following Tex11genotypes:A) -/Y, 17 MLH1 foci; B) KI;-/Y, 21 MLH1 foci; C) +/Y, 22 MLH1 foci; D) KI;+/Y, 26 MLH1 foci. This supplementary figure is related to Figure 4A.
- Supplementary Figure 4. Analysis of chromosomal synapsis in spermatocytes from 3-month-old male mice. Surface spread nuclei from spermatocytes were immunostained with anti-SYCP1 and anti-SYCP2 antibodies. XY chromosomes are indicated(A-C). Representative images are shown for the following Tex11KI/KO (KI;-/Y) genotypes: A) wt; B) W118R; C) Q173R; D) KIV749A. The spermatocyte (D) displayed extensive chromosomal asynapsis. This supplementary figure is related to Figure 6E.
- Supplementary Figure 5. Testicular maturation arrest in an infertile malepatient with V748A mutation in TEX11(WHT2499).Testicular tissue wasobtained by biopsy,sectioned,and stained with hematoxylin/eosin. The biopsy sample shows absence of post-meiotic germ cells such as round spermatids in the seminiferous tubule, whereas meiotic stage spermatocytes such as at the pachytene stage (arrows) are present. The boxed tubule in panel A is enlarged in panel B. Scalebar, 50 Ám.
- Supplementary Table 1. Common sequence variants in human TEX11gene.