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Matthew R. Avenarius, Michael S. Hildebrand, Yuzhou Zhang, Nicole C

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Presentation on theme: "Matthew R. Avenarius, Michael S. Hildebrand, Yuzhou Zhang, Nicole C"— Presentation transcript:

1 Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein 
Matthew R. Avenarius, Michael S. Hildebrand, Yuzhou Zhang, Nicole C. Meyer, Luke L.H. Smith, Kimia Kahrizi, Hossein Najmabadi, Richard J.H. Smith  The American Journal of Human Genetics  Volume 84, Issue 4, Pages (April 2009) DOI: /j.ajhg Copyright © 2009 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Linkage Mapping of an Infertility Locus Shared by Two Iranian Families Genotyping of STRPs and a SNP on chromosome 11 in (A) family L-1025 and (B) family L-968. The region of autozygosity by descent, which includes CATSPER1, is boxed. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Genetic Analyses of Affected Family Members Reveals CATSPER1 Mutations Segregating with Infertility Insertion mutations were identified in exon 1 of CATSPER1 in both families. (A) Family L-1025 segregates a c insT mutation, family L-968 a c insATGGC mutation. Sequences were aligned to the human CATSPER1 cDNA sequence (uc001ogt.1; NM_053054). The forward DNA strand and CATSPER1 genotypes for screened family members are shown. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Predicted Effect of the Mutations on the CATSPER1 Protein
The predicted alterations of CATSPER1 are severely truncated proteins if the transcripts are not subject to NMD ([A] family L-1025, [B] family L-968). Forward and reverse DNA strands, as well as the corresponding amino acid sequence, are shown. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

5 Figure 4 The Role of CatSper1 in Capacitation and Fertilization
Murine studies have shown that CatSper1 is essential for normal capacitation and fertilization. (A) CatSper1 expression in the mouse sperm tail. (B) CatSper1 null sperm cannot penetrate the zona pellucida to fertilize the oocyte. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

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