title: Frequency of recent retrotransposition events in the human factor IX gene.
abstract: Two germline retrotransposition mutations of recent origin were observed in 727 independent mutations (0.28%) in the human factor IX gene (F9) of patients with hemophilia B: 1) a 279 bp insertion in exon H originating from an Alu family of short interspersed elements not previously known to be active and, 2) a 463 bp insertion in exon E of a LINE1 element originating in the maternal grandmother. If the rates of recent germline mutation in F9 are typical of the genome, a retrotransposition event is estimated to occur somewhere in the genome of about one in every 17 children born. Analysis of other estimates for retrotransposition frequency and overall mutation rates suggests that the actual rate of retrotransposition is likely to be in the range of one in every 2.4 to 28 live births.
authors.affiliation: Department of Molecular Genetics, City of Hope National Medical Center and Beckman Research Institute, Duarte, California, USA.
authors.forename: X
authors.initials: X
authors.lastname: Li
authors.forename: W A
authors.initials: WA
authors.lastname: Scaringe
authors.forename: K A
authors.initials: KA
authors.lastname: Hill
authors.forename: S
authors.initials: S
authors.lastname: Roberts
authors.forename: A
authors.initials: A
authors.lastname: Mengos
authors.forename: D
authors.initials: D
authors.lastname: Careri
authors.forename: M T
authors.initials: MT
authors.lastname: Pinto
authors.forename: C K
authors.initials: CK
authors.lastname: Kasper
authors.forename: S S
authors.initials: SS
authors.lastname: Sommer
mesh_terms: D020087:Alu Elements / Q000235:genetics; D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005164:Factor IX / Q000235:genetics*; D005787:Gene Frequency; D002836:Hemophilia B / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D009154:Mutation; D018626:Retroelements / Q000235:genetics*; D012689:Sequence Homology, Nucleic Acid
chemical_list: D018626:Retroelements; D005164:Factor IX; D004247:DNA