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Deletion of the mouse homolog of KCNAB2, a gene linked to monosomy 1p36, results in associative memory impairments and amygdala hyperexcitability.


ABSTRACT: Ablation of the distal end of the short arm of chromosome 1 [1p36 deletion syndrome (1p36DS)] is one of the most commonly occurring terminal deletion syndromes in humans, occurring in ?1 in 5000 newborns. Subjects with 1p36DS manifest a wide range of clinical features including growth delay, congenital heart defects, and craniofacial dysmorphism. In addition, individuals with 1p36DS often exhibit some form of neurological abnormality and are typically cognitively impaired. Although there is significant variability with regard to the extent of the deletion, several genes have been mapped to region 1p36 that are known to regulate neuronal function. One such gene--KCNAB2--encodes the potassium channel auxiliary subunit Kv?2, which has been previously shown to modulate voltage-gated potassium currents in heterologous expression systems. Here, we present experiments characterizing mice in which the ortholog of KCNAB2 was deleted. We find that deletion of Kcnab2 in mice leads to deficits in associative learning and memory. In addition, using whole-cell current-clamp, we find that deletion of Kcnab2 leads to a reduction in the slow afterhyperpolarization following a burst of action potentials and a concomitant increase in neuronal excitability in projection neurons in the lateral nucleus of the amygdala. Our results suggest that loss of Kv?2 likely contributes to the cognitive and neurological impairments observed in 1p36DS patients.

SUBMITTER: Perkowski JJ 

PROVIDER: S-EPMC3078585 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature

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Deletion of the mouse homolog of KCNAB2, a gene linked to monosomy 1p36, results in associative memory impairments and amygdala hyperexcitability.

Perkowski John J JJ   Murphy Geoffrey G GG  

The Journal of neuroscience : the official journal of the Society for Neuroscience 20110101 1


Ablation of the distal end of the short arm of chromosome 1 [1p36 deletion syndrome (1p36DS)] is one of the most commonly occurring terminal deletion syndromes in humans, occurring in ∼1 in 5000 newborns. Subjects with 1p36DS manifest a wide range of clinical features including growth delay, congenital heart defects, and craniofacial dysmorphism. In addition, individuals with 1p36DS often exhibit some form of neurological abnormality and are typically cognitively impaired. Although there is sign  ...[more]

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