Ataxie mit okulomotorischer Apraxie Typ 2: Charakterisierung des ...

Literaturverzeichnis 74
38 Holmes SE, Dombroski BA, Krebs CM, Boehm CD, Kazazian HH, Jr. A new
retrotransposable human L1 element from the LRE2 locus on chromosome 1q
produces a chimaeric insertion. Nat Genet. 1994; 7: 143-8.
39 Kazazian HH, Jr., Wong C, Youssoufian H, Scott AF, Phillips DG, Antonarakis SE.
Haemophilia A resulting from de novo insertion of L1 sequences represents a novel
mechanism for mutation in man. Nature. 1988; 332: 164-6.
40 Luan DD, Korman MH, Jakubczak JL, Eickbush TH. Reverse transcription of
R2Bm RNA is primed by a nick at the chromosomal target site: a mechanism for
non-LTR retrotransposition. Cell. 1993; 72: 595-605.
41 Ostertag EM, Kazazian HH, Jr. Biology of mammalian L1 retrotransposons. Annu
Rev Genet. 2001; 35: 501-38.
42 Ostertag EM, Kazazian HH, Jr. Twin priming: a proposed mechanism for the
creation of inversions in L1 retrotransposition. Genome Res. 2001; 11: 2059-65.
43 Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, et al.
Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet. 2006; 38: 184-
90.
44 Pfeiffer P, Goedecke W, Obe G. Mechanisms of DNA double-strand break repair
and their potential to induce chromosomal aberrations. Mutagenesis. 2000; 15: 289-
302.
45 Abeysinghe SS, Chuzhanova N, Krawczak M, Ball EV, Cooper DN. Translocation
and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide
composition and recombination-associated motifs. Hum Mutat. 2003; 22: 229-44.
46 Rudiger NS, Gregersen N, Kielland-Brandt MC. One short well conserved region
of Alu-sequences is involved in human gene rearrangements and has homology
with prokaryotic chi. Nucleic Acids Res. 1995; 23: 256-60.
47 Abeysinghe SS, Chuzhanova N, Cooper DN. Gross deletions and translocations in
human genetic disease. Genome Dyn. 2006; 1: 17-34.