DIA1R is an X-linked gene related to Deleted In Autism-1.
PLoS One
; 6(1): e14534, 2011 Jan 17.
Article
em En
| MEDLINE
| ID: mdl-21264219
ABSTRACT
BACKGROUND:
Autism spectrum disorders (ASDS) are frequently occurring disorders diagnosed by deficits in three core functional areas social skills, communication, and behaviours and/or interests. Mental retardation frequently accompanies the most severe forms of ASDs, while overall ASDs are more commonly diagnosed in males. Most ASDs have a genetic origin and one gene recently implicated in the etiology of autism is the Deleted-In-Autism-1 (DIA1) gene. METHODOLOGY/PRINCIPALFINDINGS:
Using a bioinformatics-based approach, we have identified a human gene closely related to DIA1, we term DIA1R (DIA1-Related). While DIA1 is autosomal (chromosome 3, position 3q24), DIA1R localizes to the X chromosome at position Xp11.3 and is known to escape X-inactivation. The gene products are of similar size, with DIA1 encoding 430, and DIA1R 433, residues. At the amino acid level, DIA1 and DIA1R are 62% similar overall (28% identical), and both encode signal peptides for targeting to the secretory pathway. Both genes are ubiquitously expressed, including in fetal and adult brain tissue. CONCLUSIONS/SIGNIFICANCE:
Examination of published literature revealed point mutations in DIA1R are associated with X-linked mental retardation (XLMR) and DIA1R deletion is associated with syndromes with ASD-like traits and/or XLMR. Together, these results support a model where the DIA1 and DIA1R gene products regulate molecular traffic through the cellular secretory pathway or affect the function of secreted factors, and functional deficits cause disorders with ASD-like symptoms and/or mental retardation.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transtornos Globais do Desenvolvimento Infantil
/
Proteínas Adaptadoras de Transporte Vesicular
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Genes Ligados ao Cromossomo X
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Proteínas de Membrana
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Deficiência Intelectual
/
Mutação
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
Limite:
Child
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article