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Structural evidence of genomic exon‐deletion mediated by Alu‐Alu recombination in a human case with heme oxygenase‐1 deficiency
Author(s) -
Saikawa Yutaka,
Kaneda Hisashi,
Yue Lijie,
Shimura Shoetu,
Toma Tomoko,
Kasahara Yoshihito,
Yachie Akihiro,
Koizumi Shoichi
Publication year - 2000
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 - 10.1002/1098-1004(200008)16:2<178::aid-humu16>3.0.co;2-x
Subject(s) - biology , exon , genetics , recombination , alu element , gene , human genome , genome
We previously reported a family affected by heme oxygenase‐1 (HO‐1) deficiency [Yachie et al., 1999]. The proband was a compound heterozygote for a complete loss of exon 2 (the maternal allele) and a two‐nucleotide deletion within exon 3 (the paternal allele). In this report, we describe a large genomic deletion (1730 bp) including entire exon 2 in this family as a specific mechanism generating exon‐2 absence observed in the HO‐1 mRNA. Analysis of the deletion junction demonstrated fusion of a 5′ portion of Alu‐Sx element with a 3′ portion of Alu‐Sq element. The junction contained sequences with high homology to the recombinogenic Alu “core” sequence. These structural features of the HO‐1 gene suggest homologous recombination associated with Alu element. This study presents the initial characterization of the HO‐1 gene defect causing a human case of HO‐1 deficiency and provides the molecular basis for understanding this genetic disease. Hum Mutat 16:178–179, 2000. © 2000 Wiley‐Liss, Inc.