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Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella  Shuyan Tang, Xiong Wang,

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Presentation on theme: "Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella  Shuyan Tang, Xiong Wang,"— Presentation transcript:

1 Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella  Shuyan Tang, Xiong Wang, Weiyu Li, Xiaoyu Yang, Zheng Li, Wangjie Liu, Caihua Li, Zijue Zhu, Lingxiang Wang, Jiaxiong Wang, Ling Zhang, Xiaoling Sun, Erlei Zhi, Hongyan Wang, Hong Li, Li Jin, Yang Luo, Jian Wang, Shenmin Yang, Feng Zhang  The American Journal of Human Genetics  Volume 100, Issue 6, Pages (June 2017) DOI: /j.ajhg Copyright © 2017 American Society of Human Genetics Terms and Conditions

2 Figure 1 Biallelic Mutations in CFAP43 and CFAP44 Identified in Subjects with MMAF (A) Biallelic CFAP43 mutations (M1–M5) were identified in three subjects with MMAF (P003, P028, and P029). M1 was recurrent in unrelated individuals P003 and P029. The parental origins of all CFAP43 mutations are shown. (B) The positions of four point mutations in CFAP43 (M1–M3 and M5) are shown. The affected amino acid residues are conserved across species. (C) The homozygous frameshift mutation in CFAP44 (M6) was identified in one subject with MMAF (P002). Both of his parents carried the heterozygous mutation. All CFAP43 and CFAP44 mutations were verified by Sanger sequencing. Red arrows indicate the positions of point mutations, and red rectangles indicate the shifted sequences after deletion start points. Abbreviation: WT, wide-type. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2017 American Society of Human Genetics Terms and Conditions

3 Figure 2 Sperm Morphology in the Subjects Carrying Biallelic Mutations in CFAP43 or CFAP44 (A) Light microscopy shows a spermatozoon with normal morphology from a healthy man. (B–D) Most spermatozoa of the subjects with biallelic CFAP43 mutations (B, P003; C, P028; D, P029) presented with morphological abnormalities of the sperm flagella, such as short and coiled flagella, flagella of irregular caliber, and other malformations diagnosed as MMAF. (E) In individual P002, who carries homozygous frameshift mutations in CFAP44, most spermatozoa had short or absent flagella. (F) SEM shows a spermatozoon with a normal flagellum. (G–I) SEM shows that most spermatozoa of the subjects with biallelic CFAP43 mutations (G, P003; H, P028; I, P029) presented with absent, short, or coiled flagella and other MMAF phenotypes. (J) The spermatozoa in CFAP44-deficient subject P002 were abnormal. One of the major abnormalities was short flagella. The results of SEM were consistent with those of light microscopy. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2017 American Society of Human Genetics Terms and Conditions

4 Figure 3 Sperm Ultrastructures in MMAF-Affected Individuals with Mutations in CFAP43 and CFAP44 (A) The ultrastructure of a cross section in a normal spermatozoon from a healthy man. The typical “9+2” microtubule structure (nine peripheral microtubule doublets paired with nine outer dense fibers and the central pair of microtubules) is shown. (B and C) In CFAP43-deficient (B) and CFAP44-deficient (C) subjects, most spermatozoa lacked the central pair of microtubules and had hyperplasia of fibrous sheaths.4 (B) Two axonemes in one section were probably due to a folded flagellum. The flagellum showed a “9+0” arrangement of microtubules and lacked the central pair of microtubules. (C) The cross section shows a thickened fibrous sheath and an absent central pair of microtubules. The outer dense fibers and peripheral microtubule are regularly arranged. (D) TEM shows the typical “9+2” microtubule structure in a normal testicular spermatozoon from a wild-type male mouse. (E and F) TEM analysis in Cfap43-deficient (E) and Cfap44-deficient (F) male mice shows a totally disorganized axoneme in a testicular spermatozoon. The central pair of microtubules are not apparent. The outer dense fibers and peripheral microtubules are misarranged. Abbreviations: CP, central pair of microtubules (green arrows); MT, peripheral microtubule doublet (white arrows); and ODF, outer dense fiber (red arrows). The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2017 American Society of Human Genetics Terms and Conditions

5 Figure 4 Sperm Morphology in Cfap43- and Cfap44-Deficient Male Mice
(A) A spermatozoon with normal morphology from a wild-type male mouse. (B–E) Almost all spermatozoa of Cfap43-deficient (B and C) and Cfap44-deficient (D and E) male mice had flagellar abnormalities. These flagella presented with short, coiled, or other distorted shapes, consistent with the clinical phenotypes in the subjects with MMAF. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2017 American Society of Human Genetics Terms and Conditions

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