title: An insertion mutation of the bovine Fii gene is responsible for factor XI deficiency in Japanese black cattle.
abstract: Factor XI deficiency in Japanese black cattle is an hereditary mild bleeding disorder with an autosomal recessive mode of inheritance. To characterize the molecular lesion causing factor XI deficiency in cattle, we isolated an entire coding region of the bovine F11 gene, which comprises 15 exons and 14 introns, and determined its nucleotide sequences. Comparison of the nucleotide sequences of the F11 gene between affected and unaffected animals revealed an insertion of 15 nucleotides in exon 9 of the affected animals. The insertion results in a substitution of one amino acid with six amino acids in a highly conserved amino acid sequence in the fourth apple domain of factor XI protein. Genotyping of the F11 gene in 109 Japanese black cattle revealed that the insertion clearly corresponded to the factor XI activities of the animals. We therefore concluded that the insertion of 15 nucleotides in the F11 gene is the causative mutation for factor XI deficiency in Japanese black cattle. Genotyping of the F11gene by detecting the insertion will be an effective DNA-based diagnostic system to prevent incidence of the disease.
authors.affiliation: Graduate School of Natural Science and Technology, Okayama University, Tsushima-naka, Okayama 700-8530, Japan.
authors.forename: Masaki
authors.initials: M
authors.lastname: Kunieda
authors.forename: Takehito
authors.initials: T
authors.lastname: Tsuji
authors.forename: Abdol Rahim
authors.initials: AR
authors.lastname: Abbasi
authors.forename: Maryam
authors.initials: M
authors.lastname: Khalaj
authors.forename: Miho
authors.initials: M
authors.lastname: Ikeda
authors.forename: Keiko
authors.initials: K
authors.lastname: Miyadera
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Ogawa
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Kunieda
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002417:Cattle; D002418:Cattle Diseases / Q000235:genetics*; D002874:Chromosome Mapping; D017931:DNA Primers; D004251:DNA Transposable Elements; D005091:Exons / Q000235:genetics; D005172:Factor XI / Q000737:chemistry / Q000235:genetics*; D005173:Factor XI Deficiency / Q000235:genetics* / Q000662:veterinary*; D005808:Genes, Recessive; D006801:Humans; D007438:Introns / Q000235:genetics; D051379:Mice; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid
chemical_list: D017931:DNA Primers; D004251:DNA Transposable Elements; D005172:Factor XI