Mouse Models of Cognitive Disabilities in Trisomy 21 (Down Syndrome)

被引：24

作者：

Roubertoux, Pierre L. ^{[1
,2
]}

Carlier, Michele ^{[3
,4
]}

机构：

[1] INSERM, U910 Genet Med, F-13385 Marseille 5, France

[2] Aix Marseille Univ, Fac Med, Marseille, France

[3] Aix Marseille Univ, Behav Brain & Cognit Dept, Marseille, France

[4] CNRS, Cognit Psychol Ctr, F-75700 Paris, France

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS | 2010年 / 154C卷 / 04期

关键词：

Down syndrome; HSA21; MMU10; MMU16; MMU17; cognition; intellectual disability; learning memory; synaptic plasticity; SYNDROME CRITICAL REGION; LONG-TERM POTENTIATION; TS65DN MOUSE; TRANSGENIC MICE; ANIMAL-MODEL; IN-VIVO; NEUROTROPHIC FACTOR; ALZHEIMERS-DISEASE; MOTOR DEVELOPMENT; MEMORY DEFICITS;

D O I：

10.1002/ajmg.c.30280

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Trisomy 21 (TRS21), also referred to as Down syndrome, occurs once in every 800-1,000 live births. It is the consequence of an extra copy of HSA21 that causes an imbalanced gene dose effect. TRS21 is the first known genetic cause of cognitive disability. The syndrome is complex, and includes various cardiac, immune, and bone disorders. Most of these signs are highly variable in expression but cognitive disability is the most constant characteristic of persons with TRS21. The syntenies that exist between HSA21 and three mouse chromosomes (MMU10, MMU16, and MMU17) offer the opportunity for a genotype-phenotype correlation. We present here the segmental trisomies available in the mouse and we discuss their contribution to the brain and cognitive phenotypes of TRS21. (C) 2010 Wiley-Liss, Inc.

引用

页码：400 / 416

页数：17

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