title: Two novel mutations in COII and tRNA(His) mitochondrial genes in asthenozoospermic infertiles men.
abstract: In this study we performed a systematic sequence analysis of 7 mitochondrial genes (cytochrome oxidase I, cytochrome oxidase II, cytochrome oxidase III, adenosine triphosphate synthase6, ATP synthase8, cytochrome b and tRNA(His)) in 64 infertile men suffering from asthenospermia (n=31) in comparison to normospermic infertile men (n=33) from Tunisian population. A total of 92 nucleotide substitutions in sperm mitochondrial DNA were found; 88 of them were previously identified and reported in the human mitochondrial DNA database (www.mitomap.org) and 4 were novel. We also detected in 4 asthenospermic patients a double novels mutations, the first was found in COXII gene (m.8021 G/A) that was absent in normospermic infertile men. This mutation substituting the Isoleucine at position 146 to Valine in a conserved amino acid in the transmembrane functional domain of the protein. And the second was detected in the tRNA(His) gene (m.12187C>A) this mutation was found in homoplasmic state and was absent in normospermic patients. It was conserved throughout evolution and affects a wobble adenine in the T-loop region at the 54 codon of mitochondrial tRNA(His) .
authors.affiliation: Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax, Tunisia. Electronic address: asiwarbaklouti@gmail.com.
authors.forename: Baklouti-Gargouri
authors.initials: BG
authors.lastname: Siwar
authors.affiliation: Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax, Tunisia.
authors.forename: Ghorbel
authors.initials: G
authors.lastname: Myriam
authors.affiliation: Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax, Tunisia.
authors.forename: Ben Mahmoud
authors.initials: BM
authors.lastname: Afif
authors.affiliation: Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax, Tunisia.
authors.forename: Mkaouar-Rebai
authors.initials: MR
authors.lastname: Emna
authors.affiliation: Laboratory of Histology, Sfax Faculty of Medicine, University of Sfax, Tunisia.
authors.forename: Chakroun
authors.initials: C
authors.lastname: Nozha
authors.affiliation: Laboratory of Histology, Sfax Faculty of Medicine, University of Sfax, Tunisia.
authors.forename: Sellami
authors.initials: S
authors.lastname: Afifa
authors.affiliation: Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax, Tunisia.
authors.forename: Fakhfakh
authors.initials: F
authors.lastname: Faiza
authors.affiliation: Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax, Tunisia; Laboratory of Histology, Sfax Faculty of Medicine, University of Sfax, Tunisia.
authors.forename: Ammar-Keskes
authors.initials: AK
authors.lastname: Leila
mesh_terms: D000328:Adult; D053627:Asthenozoospermia / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012354:RNA, Transfer, His / Q000235:genetics*; D055815:Young Adult
chemical_list: D024101:Mitochondrial Proteins; D012354:RNA, Transfer, His; C117108:cytochrome C oxidase subunit II; D003576:Electron Transport Complex IV
keywords: COXII gene; Male infertility; Mitochondrial DNA polymorphism; tRNA(His)