title: An Alu insert as the cause of a severe form of hemophilia A.
abstract: Alu sequences represent a specific human family of interspersed repetitive DNA, with a copy number in excess of 500,000 within the human genome. Alu repeats are rarely present in protein-coding regions of mature RNA, and only a few Alu insert mutations have been described so far. In this paper we present an Alu retroposition event in a family with a severe form of hemophilia A. The inserted Alu element belonging to the youngest Yb8 subfamily disrupts the reading frame at methionine 1224, exon 14 of the factor VIII gene, leading to a stop codon within the inserted sequence. This observation indicates that the retroposition of Alu elements is a continuing process possibly generating various human genetic defects.
authors.affiliation: Research Center for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia.
authors.forename: E
authors.initials: E
authors.lastname: Sukarova
authors.forename: A J
authors.initials: AJ
authors.lastname: Dimovski
authors.forename: P
authors.initials: P
authors.lastname: Tchacarova
authors.forename: G H
authors.initials: GH
authors.lastname: Petkov
authors.forename: G D
authors.initials: GD
authors.lastname: Efremov
mesh_terms: D000293:Adolescent; D020087:Alu Elements; D000595:Amino Acid Sequence; D001483:Base Sequence; D002543:Cerebral Hemorrhage / Q000209:etiology; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005169:Factor VIII / Q000235:genetics*; D006395:Hemarthrosis / Q000209:etiology; D006467:Hemophilia A / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional
chemical_list: D005169:Factor VIII