Genetic effects on human cognition: lessons from the study of mental retardation syndromes
- Correspondence to: Dr J Flint, Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK; jf{at}molbiol.ox.ac.uk
- Received 9 February 2001
- Accepted 25 October 2001
- Revised 17 October 2001
Abstract
The molecular basis of human cognition is still poorly understood, but recent advances in finding genetic mutations that result in cognitive impairment may provide insights into the neurobiology of cognitive function. Here we review the progress that has been made so far and assess what has been learnt from this work on the relation between genes and cognitive processes. We review evidence that the pathway from genetic lesion to cognitive impairment can be dissected, that some genetic effects on cognition are relatively direct and we argue that the study of mental retardation syndromes is giving us new clues about the biological bases of cognition.
- TM4SF, transmembrane 4 superfamily
- MRX, X linked MR
- IQ, intelligence quotients
- IL1RAPL, IL1 receptor accessory protein like
- NCS, neuronal calcium sensor
- GEF, guanine-nucleotide exchange factors
- GAP, GTPase-activating proteins
- GDIs, guanine nucleotide dissociation inhibitors
- NF1, neurofibromatosis type 1
- MAPK, mitogen activated protein kinases
- RSK2, ribosomal S6 kinase
- HDAC1, histone deacetylase 1
- CREB, cyclic adenosine monophosphate response element binding protein
- FRAXA, fragile X syndrome
- snoRNAs, small nucleolar RNAs
- FOX, DNA binding domain termed forkhead
- FMRP, fragile X gene product
