Molecular Genetics of Human Cognition

Table 1.

Summary of Diseases Affecting Human Learning and Memory.

Human Mental	Gene Product	Potential Targets	Mouse Model		References
* - The design of the initial behavioral studies may have been flawed (78).
Retardation			Learning	LTP
Syndrome			Defects	Change
Angelman Syndrome	Ubiquitin E6 ligase	p53 (tumor suppressor), others?	Yes	Yes	(2)
Neurofibromatosis	Neurofibromin 1 (NF1)	Ras/ERK Adenylyl cyclase Cytoskeleton	Yes	Yes	(11)
Coffin-Lowry Syndrome	Ribosomal S6 Kinase 2	CREB Ribosomal S6 protein	Yes	?	(17)
Down Syndrome (Trisomy 21)	DS critical locus: APP (Aβ) DYRK1A SOD1 K_IR^s	Dysregulation of genes on DS critical locus	Yes	Yes	(20)
Rett Syndrome	Methyl-CpG Binding Protein 2 (MeCP2)	Lack of transcriptional repression	No	No	(33, 40)
Rubinstein-Taybi Syndrome	CREB-Binding Protein	(CBP) CREB-mediated transcription	Yes	?	(43, 47)
Myotonic Dystrophy	DM1-Protein Kinase (DMPK)	Chromatin structure RNA binding proteins RNA interference	?	?	(49)
FMR2	FMR2 Protein	Unknown-gene expression	Yes	Yes	(61)
FMR1	FMR1 Protein	RNA targeting Protein synthesis Spine structure	Yes*	?	(77)
Williams Syndrome	WS critical locus: LIMK-1 Elastin Syntaxin 1A FKBP6 EIFH4	Cytoskeleton Extracellular matrix Spine morphology	Yes	Yes	(72)