Abstract
Non-specific mental retardation (NSMR) is a common human disorder characterized by mental handicap as the only clinical symptom. Among the recently identified MR genes is GDI1, which encodes αGdi, one of the proteins controlling the activity of the small GTPases of the Rab family in vesicle fusion and intracellular trafficking. We report the cognitive and behavioral characterization of mice carrying a deletion of Gdi1. The Gdi1-deficient mice are fertile and anatomically normal. They appear normal also in many tasks to assess spatial and episodic memory and emotional behavior. Gdi1-deficient mice are impaired in tasks requiring formation of short-term temporal associations, suggesting a defect in short-term memory. In addition, they show lowered aggression and altered social behavior. In mice, as in humans, lack of Gdi1 spares most central nervous system functions and preferentially impairs only a few forebrain functions required to form temporal associations. The general similarity to human mental retardation is striking, and suggests that the Gdi1 mutants may provide insights into the human defect and into the molecular mechanisms important for development of cognitive functions.
| Original language | English |
|---|---|
| Pages (from-to) | 2567-2580 |
| Number of pages | 14 |
| Journal | Human Molecular Genetics |
| Volume | 11 |
| Issue number | 21 |
| Publication status | Published - Oct 1 2002 |
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ASJC Scopus subject areas
- Genetics
Cite this
Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice. / D'Adamo, Patrizia; Welzl, Hans; Papadimitriou, Stavros; Di Barletta, Marina Raffaele; Tiveron, Cecilia; Tatangelo, Laura; Pozzi, Laura; Chapman, Paul F.; Knevett, Simon G.; Ramsay, Mark F.; Valtorta, Flavia; Leoni, Chiara; Menegon, Andrea; Wolfer, David P.; Lipp, Hans Peter; Toniolo, Daniela.
In: Human Molecular Genetics, Vol. 11, No. 21, 01.10.2002, p. 2567-2580.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice
AU - D'Adamo, Patrizia
AU - Welzl, Hans
AU - Papadimitriou, Stavros
AU - Di Barletta, Marina Raffaele
AU - Tiveron, Cecilia
AU - Tatangelo, Laura
AU - Pozzi, Laura
AU - Chapman, Paul F.
AU - Knevett, Simon G.
AU - Ramsay, Mark F.
AU - Valtorta, Flavia
AU - Leoni, Chiara
AU - Menegon, Andrea
AU - Wolfer, David P.
AU - Lipp, Hans Peter
AU - Toniolo, Daniela
PY - 2002/10/1
Y1 - 2002/10/1
N2 - Non-specific mental retardation (NSMR) is a common human disorder characterized by mental handicap as the only clinical symptom. Among the recently identified MR genes is GDI1, which encodes αGdi, one of the proteins controlling the activity of the small GTPases of the Rab family in vesicle fusion and intracellular trafficking. We report the cognitive and behavioral characterization of mice carrying a deletion of Gdi1. The Gdi1-deficient mice are fertile and anatomically normal. They appear normal also in many tasks to assess spatial and episodic memory and emotional behavior. Gdi1-deficient mice are impaired in tasks requiring formation of short-term temporal associations, suggesting a defect in short-term memory. In addition, they show lowered aggression and altered social behavior. In mice, as in humans, lack of Gdi1 spares most central nervous system functions and preferentially impairs only a few forebrain functions required to form temporal associations. The general similarity to human mental retardation is striking, and suggests that the Gdi1 mutants may provide insights into the human defect and into the molecular mechanisms important for development of cognitive functions.
AB - Non-specific mental retardation (NSMR) is a common human disorder characterized by mental handicap as the only clinical symptom. Among the recently identified MR genes is GDI1, which encodes αGdi, one of the proteins controlling the activity of the small GTPases of the Rab family in vesicle fusion and intracellular trafficking. We report the cognitive and behavioral characterization of mice carrying a deletion of Gdi1. The Gdi1-deficient mice are fertile and anatomically normal. They appear normal also in many tasks to assess spatial and episodic memory and emotional behavior. Gdi1-deficient mice are impaired in tasks requiring formation of short-term temporal associations, suggesting a defect in short-term memory. In addition, they show lowered aggression and altered social behavior. In mice, as in humans, lack of Gdi1 spares most central nervous system functions and preferentially impairs only a few forebrain functions required to form temporal associations. The general similarity to human mental retardation is striking, and suggests that the Gdi1 mutants may provide insights into the human defect and into the molecular mechanisms important for development of cognitive functions.
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UR - http://www.scopus.com/inward/citedby.url?scp=0036798191&partnerID=8YFLogxK
M3 - Article
C2 - 12354782
AN - SCOPUS:0036798191
VL - 11
SP - 2567
EP - 2580
JO - Human Molecular Genetics
JF - Human Molecular Genetics
SN - 0964-6906
IS - 21
ER -