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Xiong Wang, Hairong Jin, Fengchan Han, Yuanqing Cui, Jie Chen, Chunyan Yang, Peng Zhu, Wenting Wang, Guangzhong Jiao, Wenjuan Wang, Cuifang Hao, Zhenli Gao
This study aimed to investigate the genetic pathogeny of multiple morphological anomalies of the flagella (MMAF), which is a genetically heterogeneous disorder leading to male infertility. Nine patients with severe asthenozoospermia caused by MMAF were recruited. Whole genome sequencing and Sanger sequencing were performed and we found that 4 of the 9 patients were affected by the same homozygous frame-shift mutation c.11726_11727delCT (p.[Pro3909ArgfsTer33]) in exon 73 of dynein axonemal heavy chain 1 (DNAH1) gene...
August 30, 2016: Clinical Genetics
Clémentine Wambergue, Raoudha Zouari, Selima Fourati Ben Mustapha, Guillaume Martinez, Françoise Devillard, Sylviane Hennebicq, Véronique Satre, Sophie Brouillet, Lazhar Halouani, Ouafi Marrakchi, Mounir Makni, Habib Latrous, Mahmoud Kharouf, Florence Amblard, Christophe Arnoult, Pierre F Ray, Charles Coutton
STUDY QUESTION: Does DNAH1 status influence intracytoplasmic sperm injection (ICSI) outcomes for patients with multiple morphological abnormalities of the sperm flagella (MMAF)? SUMMARY ANSWER: Despite a highly abnormal morphology, sperm from MMAF patients with DNAH1 mutations have a low aneuploidy rate and good nuclear quality, leading to good embryonic development following ICSI and a high pregnancy rate. WHAT IS KNOWN ALREADY: Teratozoospermia represents a heterogeneous group including a wide range of phenotypes...
June 2016: Human Reproduction
Yuhuan Meng, Wenlu Zhang, Jinghui Zhou, Mingyu Liu, Junhui Chen, Shuai Tian, Min Zhuo, Yu Zhang, Yang Zhong, Hongli Du, Xiaoning Wang
Some mammals breed throughout the year, while others breed only at certain times of year. These differences in reproductive behavior can be explained by evolution. We identified positively-selected genes in two sets of species with different degrees of relatedness including seasonal and non-seasonal breeding species, using branch-site models. After stringent filtering by sum of pairs scoring, we revealed that more genes underwent positive selection in seasonal compared with non-seasonal breeding species. Positively-selected genes were verified by cDNA mapping of the positive sites with the corresponding cDNA sequences...
2015: PloS One
Faiqa Imtiaz, Rabab Allam, Khushnooda Ramzan, Moeenaldeen Al-Sayed
BACKGROUND: Primary Ciliary Dyskinesia (PCD) is a genetically heterogeneous ciliopathy caused by ultrastructural defects in ciliary or flagellar structure and is characterized by a number of clinical symptoms including recurrent respiratory infections progressing to permanent lung damage and infertility. CASE PRESENTATION: Here we describe our search to delineate the molecular basis in two affected sisters with clinically diagnosed PCD from a consanguineous Saudi Arabian family, in which all known genes have been excluded...
2015: BMC Medical Genetics
Charles Coutton, Jessica Escoffier, Guillaume Martinez, Christophe Arnoult, Pierre F Ray
BACKGROUND: Male infertility affects >20 million men worldwide and represents a major health concern. Although multifactorial, male infertility has a strong genetic basis which has so far not been extensively studied. Recent studies of consanguineous families and of small cohorts of phenotypically homogeneous patients have however allowed the identification of a number of autosomal recessive causes of teratozoospermia. Homozygous mutations of aurora kinase C (AURKC) were first described to be responsible for most cases of macrozoospermia...
July 2015: Human Reproduction Update
Xiaoyun Wang, Fengyu Hu, Xuchu Hu, Wenjun Chen, Yan Huang, Xinbing Yu
Epidemiological and experimental evidence demonstrated that Clonorchis sinensis is an important risk factor of hepatic fibrosis and cholangiocarcinoma. C. sinensis excretory/secretory products (CsESPs) are protein complex including proteases, antioxidant enzymes, and metabolic enzymes, which may contribute to pathogenesis of liver fluke-associated hepatobiliary diseases. However, potential CsESP candidates involved into hepatic fibrosis and cholangiocarcinoma still remain to be elucidated. In the present study, we performed proteomic identification of CsESP candidates capable of binding and activating human hepatic stellate cell line LX-2...
August 2014: Parasitology Research
Mariem Ben Khelifa, Charles Coutton, Raoudha Zouari, Thomas Karaouzène, John Rendu, Marie Bidart, Sandra Yassine, Virginie Pierre, Julie Delaroche, Sylviane Hennebicq, Didier Grunwald, Denise Escalier, Karine Pernet-Gallay, Pierre-Simon Jouk, Nicolas Thierry-Mieg, Aminata Touré, Christophe Arnoult, Pierre F Ray
Ten to fifteen percent of couples are confronted with infertility and a male factor is involved in approximately half the cases. A genetic etiology is likely in most cases yet only few genes have been formally correlated with male infertility. Homozygosity mapping was carried out on a cohort of 20 North African individuals, including 18 index cases, presenting with primary infertility resulting from impaired sperm motility caused by a mosaic of multiple morphological abnormalities of the flagella (MMAF) including absent, short, coiled, bent, and irregular flagella...
January 2, 2014: American Journal of Human Genetics
Koa Hosoki, Takao Fujisawa, Sawako Masuda, Satoko Usui, Hiroaki Ito, Mizuho Nagao, Akihiko Terada, Kousei Iguchi, Satoru Ogawa, Kaname Nakatani, Kazuhiko Takeuchi
We report a case of 18-old girl with primary ciliary dyskinesia (PCD) who had been diagnosed as asthma. Since birth, she had presented with unexplained productive cough, sputum, rhinorrhea, and stridor with situs solitus. Her familial history was negative for PCD. At 2 years of age, ciliary beat frequency and beat pattern were normal. She was diagnosed as rhinosinusitis, chronic secretory otitis media. At 3 years of age, she was diagnosed as asthma because of wheezing not associated with respiratory infection...
July 2010: Arerugī, [Allergy]
J Neesen, R Kirschner, M Ochs, A Schmiedl, B Habermann, C Mueller, A F Holstein, T Nuesslein, I Adham, W Engel
Impaired ciliary and flagellar functions resulting in male infertility and recurrent respiratory tract infections are found in patients suffering from primary ciliary dyskinesia (PCD). In most cases, axonemal defects are present, i.e. PCD patients often lack inner and/or outer dynein arms in their sperm tails and cilia, supporting the hypothesis that mutations in dynein genes may cause PCD. However, to date it is unclear whether mutations in dynein heavy chain genes are responsible for impaired flagellar and ciliary motility in mammals...
May 15, 2001: Human Molecular Genetics
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