DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression.
Hum Mutat
; 11(2): 121-6, 1998.
Article
em En
| MEDLINE
| ID: mdl-9482575
ABSTRACT
Deficiency of the enzyme iduronate-2-sulfatase (IDS) results in Hunter syndrome, an X-linked recessive lysosomal storage disorder. In this study, analysis of a patient with features of moderate to severe Hunter syndrome identified a 178-bp deletion upstream of IDS exon 1 spanning a predicted promoter element. Sequencing of all nine IDS exons from this patient failed to identify any additional mutations within the coding regions or in intron-exon boundaries. The 178-bp deletion is flanked by two 13-bp direct repeats and potential DNA topoisomerase II recognition sites. These findings point toward nonhomologous recombination as a possible mechanism for this mutation. Expression studies on this patient do not detect any IDS transcripts, indicating that the deletion spans sequences essential for IDS expression. Complete lack of expression of IDS is consistent with the moderate to severe phenotype observed in this patient.
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Base de dados:
MEDLINE
Assunto principal:
Regulação da Expressão Gênica
/
Regiões Promotoras Genéticas
/
Mucopolissacaridose II
/
Deleção de Sequência
/
Iduronato Sulfatase
Idioma:
En
Ano de publicação:
1998
Tipo de documento:
Article