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Frequency of recent retrotransposition events in the human factor IX gene
Author(s) -
Li Xuemin,
Scaringe William A.,
Hill Kathleen A.,
Roberts Stacy,
Mengos April,
Careri Diane,
Pinto Miguel Tezanos,
Kasper Carol K.,
Sommer Steve S.
Publication year - 2001
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1134
Subject(s) - retrotransposon , biology , genetics , exon , germline , gene , alu element , mutation , germline mutation , mutation rate , genome , human genome , transposable element
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. Hum Mutat 17:511–519, 2001. © 2001 Wiley‐Liss, Inc.