Single-nucleotide polymorphisms in the promoter region influence the expression of the human follicle-stimulating hormone receptor Alain Wunsch, M.Sc.,

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Presentation transcript:

Single-nucleotide polymorphisms in the promoter region influence the expression of the human follicle-stimulating hormone receptor Alain Wunsch, M.Sc., Yuni Ahda, Ph.D., Ferya Banaz-Yaşar, M.Sc., Barbara Sonntag, M.D., Eberhard Nieschlag, M.D., Manuela Simoni, M.D., Ph.D., Jörg Gromoll, Ph.D. Fertility and Sterility Volume 84, Issue 2, Pages 446-453 (August 2005) DOI: 10.1016/j.fertnstert.2005.02.031 Copyright © 2005 American Society for Reproductive Medicine Terms and Conditions

FIGURE 1 Core promoter region of the human follicle stimulating hormone receptor (FSHR). White arrows indicate positions of single-nucleotide polymorphisms. Numbers indicate base positions with respect to the translation initiation site (dark arrow). −123 is located in the E-box. Italicized letters indicate the translated region. Wunsch. SNPs in the human FSHR promoter region. Fertil Steril 2005. Fertility and Sterility 2005 84, 446-453DOI: (10.1016/j.fertnstert.2005.02.031) Copyright © 2005 American Society for Reproductive Medicine Terms and Conditions

FIGURE 2 Distribution of the single-nucleotide polymorphism (SNP) at position −29. German (n = 202) and Indonesian (n = 55) women were analyzed. Wunsch. SNPs in the human FSHR promoter region. Fertil Steril 2005. Fertility and Sterility 2005 84, 446-453DOI: (10.1016/j.fertnstert.2005.02.031) Copyright © 2005 American Society for Reproductive Medicine Terms and Conditions

FIGURE 3 Promoter activity in JC-410/COS-7/SK-11 cells transfected with pGL3 promoter/reporter gene constructs. JC-410/COS-7/SK-11 cells were transfected with luciferase-plasmids containing a wild-type promoter or a promoter comprising one single-nucleotide polymorphism (SNP). Bars show relative luciferase activity ± SD (n = 3). *Significant difference to the respective wt promoter (P<.001, one-way ANOVA). Wunsch. SNPs in the human FSHR promoter region. Fertil Steril 2005. Fertility and Sterility 2005 84, 446-453DOI: (10.1016/j.fertnstert.2005.02.031) Copyright © 2005 American Society for Reproductive Medicine Terms and Conditions

FIGURE 4 Competition electrophoretic mobility shift assays (EMSA) with oligonucleotides comprising the single-nucleotide polymorphism (SNP) at position 29 and nuclear extracts from COS-7 cells (C). In lanes marked “wt,” wild-type oligonucleotides were used; in lanes marked “−29,” mutated oligonucleotides were used. For competition analysis, unlabeled oligonucleotides were added as cold competitor in 100× excess. Arrows indicate DNA-protein complexes. One representative experiment (out of three) is shown. Wunsch. SNPs in the human FSHR promoter region. Fertil Steril 2005. Fertility and Sterility 2005 84, 446-453DOI: (10.1016/j.fertnstert.2005.02.031) Copyright © 2005 American Society for Reproductive Medicine Terms and Conditions

FIGURE 5 Competition electrophoretic mobility shift assays (EMSA) with oligonucleotides comprising the single-nucleotide polymorphism (SNP) at position 138 and nuclear extracts from human primary granulosa cells (GC). In lanes marked “wt,” wild-type oligonucleotides were used; in lanes marked “−138,” mutated oligonucleotides were used. For competition analysis, unlabeled oligonucleotides were added as cold competitor in 100× excess. Arrows indicate DNA-protein complexes. One representative experiment (out of three) is shown. Wunsch. SNPs in the human FSHR promoter region. Fertil Steril 2005. Fertility and Sterility 2005 84, 446-453DOI: (10.1016/j.fertnstert.2005.02.031) Copyright © 2005 American Society for Reproductive Medicine Terms and Conditions