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Am J Hum Genet ; 67(5): 1110-20, 2000 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-11013137

RESUMO

Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities, including corneal opacity, retinal degeneration, and strabismus. Unlike the situation in other lysosomal disorders, the accumulation of heterogeneous storage material observed in MLIV does not result from a block in the catabolic pathways but is due to an ill-defined transport defect in the late steps of endocytosis. With the aim of cloning the MLIV gene, we searched in the 19p13.2-13.3 region, where the locus previously had been assigned by linkage mapping. In this region, we have identified a novel gene that is mutated in all patients with MLIV who were enrolled in our study. One patient was homozygous for the splice-acceptor mutation, and another was homozygous for a deletion removing the first six exons of the gene. In addition, four compound heterozygotes for these two mutations were identified. Haplotype analysis indicates that we have identified the two major founder mutations, which account for >95% of MLIV chromosomes in Ashkenazi Jewish patients. The gene, ML4, encodes a protein named "mucolipidin, " which localizes on the plasma membrane and, in the carboxy-terminal region, shows homologies to polycystin-2, the product of the polycystic kidney disease 2 gene (PKD2) and to the family of transient receptor potential Ca(2+) channels. Mucolipidin is likely to play an important role in endocytosis.


Assuntos
Efeito Fundador , Proteínas de Membrana/genética , Mucolipidoses/genética , Mutação/genética , Processamento Alternativo/genética , Sequência de Aminoácidos , Animais , Sequência de Bases , Células COS , Clonagem Molecular , Análise Mutacional de DNA , Bases de Dados como Assunto , Éxons/genética , Etiquetas de Sequências Expressas , Fibroblastos , Imunofluorescência , Haplótipos/genética , Humanos , Proteínas de Membrana/análise , Proteínas de Membrana/química , Dados de Sequência Molecular , Fases de Leitura Aberta/genética , RNA Mensageiro/análise , RNA Mensageiro/genética , Alinhamento de Sequência , Canais de Cátion TRPM , Transfecção , Canais de Potencial de Receptor Transitório
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