دورية أكاديمية
Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF).
| العنوان: | Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF). |
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| المؤلفون: | Sha YW; 1 Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian, China., Wang X; 2 Department of Surgery, Medical College of Shandong University, Jinan, Shandong, China.; 3 Reproductive Medicine Center, Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, Shandong, China., Xu X; 4 School of Pharmaceutical Sciences, Xiamen University, Xiamen, Fujian, China., Su ZY; 1 Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian, China., Cui Y; 3 Reproductive Medicine Center, Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, Shandong, China., Mei LB; 1 Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian, China., Huang XJ; 1 Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian, China., Chen J; 3 Reproductive Medicine Center, Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, Shandong, China., He XM; 1 Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian, China., Ji ZY; 1 Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian, China., Bao H; 3 Reproductive Medicine Center, Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, Shandong, China., Yang X; 5 Department of Reproductive Medicine, the First Hospital Affiliated to Nanjing Medical University, Nanjing, Jiangsu, China., Li P; 1 Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, Fujian, China., Li L; 6 Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Chaoyang, Beijing, China. |
| المصدر: | Reproductive sciences (Thousand Oaks, Calif.) [Reprod Sci] 2019 Jan; Vol. 26 (1), pp. 26-34. Date of Electronic Publication: 2017 Dec 25. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Springer Country of Publication: United States NLM ID: 101291249 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1933-7205 (Electronic) Linking ISSN: 19337191 NLM ISO Abbreviation: Reprod Sci Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2020- : [New York] : Springer Original Publication: Thousand Oaks, Calif. : Sage |
| مواضيع طبية MeSH: | Infertility, Male/*genetics , Microtubule Proteins/*genetics , Nuclear Proteins/*genetics , Peptide Hydrolases/*genetics , Sperm Tail/*pathology, Adult ; Cytoskeletal Proteins ; Humans ; Infertility, Male/pathology ; Male ; Mutation ; Exome Sequencing |
| مستخلص: | Multiple morphological abnormalities of the sperm flagella (MMAF) is a rare disease that causes primary infertility. However, the genetic causes for approximately half of MMAF cases are unknown. Whole exome sequencing analysis of the 27 patients with MMAF identified several CFAP44 mutations (3 homozygous: c.2935_2944del: p.D979*, c.T1769A: p.L590Q, c.2005_2006del: p.M669Vfs*13; and putative compound heterozygous: c.G3262A: p.G1088S and c.C1718A: p.P573H.) and CFAP43 acceptor splice-site deletion (c.3661-2A>-) mutations in 5 and 1 patients, respectively. Real-time quantitative polymerase chain reaction assays also demonstrated that CFAP44 expression was very weak in patient (P)1 and P3, and CFAP43 expression was lower in P6 than in the control. Immunofluorescence analysis of CFAP43 showed lower CFAP43 protein expression levels in P6 than in the normal control. This study demonstrated that biallelic mutations in CFAP44 and CFAP43 cause MMAF. These results provide researchers with a new insight to understand the genetic etiology of MMAF and to identify new loci for genetic counselling of MMAF. |
| فهرسة مساهمة: | Keywords: CFAP43; CFAP44; MMAF; consanguineous family; dysplasia of the fibrous sheath; multiple morphological abnormalities of the sperm flagella; whole exome sequencing |
| المشرفين على المادة: | 0 (CFAP43 protein, human) 0 (Cytoskeletal Proteins) 0 (Microtubule Proteins) 0 (Nuclear Proteins) EC 3.4.- (CFAP44 protein, human) EC 3.4.- (Peptide Hydrolases) |
| تواريخ الأحداث: | Date Created: 20171227 Date Completed: 20190417 Latest Revision: 20221207 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1177/1933719117749756 |
| PMID: | 29277146 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. | تدمد: | 1933-7205 |
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| DOI: | 10.1177/1933719117749756 |