Possible dosage effect of maternally expressed genes on visual recognition memory in Prader-Willi syndrome.

Joseph B, Egli M, Sutcliffe JS, Thompson T
Am J Med Genet. 2001 105 (1): 71-5

PMID: 11425004

Seventeen patients with Prader-Willi syndrome (7 with paternal deletion of chromosome 15q11-q13 and 10 with maternal uniparental disomy [UPD]), and 9 controls performed a computerized visual recognition task. A series of color digital photographs were presented; most were presented twice, but the remainder appeared only once. Photographs presented twice were separated in their presentation by either 0, 10, 30, 50 or 100 intervening photographs. Subjects indicated whether each photograph had been presented previously. This procedure was implemented twice, once using photographs of foods, and once using photographs of nonfood objects. As the number of intervening photographs between the first and second presentation increased, subjects were less likely to remember having seen the photograph before. Performance by UPD subjects was less affected by increasing the number of intervening photographs relative to the other two groups, suggesting they had superior visual recognition memory. This raises the possibility of a beneficial effect of having two copies maternally expressed genes on chromosome 15. UBE3A is suggested as a possible candidate for this effect.

MeSH Terms (14)

Adolescent Adult Computers False Positive Reactions Female Gene Dosage Genomic Imprinting Humans Male Memory Observer Variation Pattern Recognition, Visual Phenotype Prader-Willi Syndrome

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