Author
Listed:
- D. H. Skuse
(*Behavioural Sciences Unit, Institute of Child Health)
- R. S. James
(†Wessex Regional Genetics Laboratory, Salisbury District Hospital)
- D. V. M. Bishop
(‡MRC Applied Psychology Unit)
- B. Coppin
(§Wessex Regional Genetics Service, Princess Anne Hospital)
- P. Dalton
(†Wessex Regional Genetics Laboratory, Salisbury District Hospital)
- G. Aamodt-Leeper
(*Behavioural Sciences Unit, Institute of Child Health)
- M. Bacarese-Hamilton
(*Behavioural Sciences Unit, Institute of Child Health)
- C. Creswell
(*Behavioural Sciences Unit, Institute of Child Health)
- R. McGurk
(*Behavioural Sciences Unit, Institute of Child Health)
- P. A. Jacobs
(†Wessex Regional Genetics Laboratory, Salisbury District Hospital)
Abstract
Turner's syndrome is a sporadic disorder of human females in which all or part of one X chromosome is deleted1. Intelligence is usually normal2 but social adjustment problems are common3. Here we report a study of 80 females with Turner's syndrome and a single X chromosome, in 55 of which the X was maternally derived (45,Xm) and in 25 it was of paternal origin (45,Xp). Members of the 45,Xp group were significantly better adjusted, with superior verbal and higher-order executive function skills, which mediate social interactions4. Our observations suggest that there is a genetic locus for social cognition, which is imprinted5 and is not expressed from the maternally derived X chromosome. Neuropsychological and molecular investigations of eight females with partial deletions of the short arm of the X chromosome6 indicate that the putative imprinted locus escapes X-inactivation7, and probably lies on Xq or close to the centromere on Xp. If expressed only from the X chromosome of paternal origin, the existence of this locus could explain why 46,XY males (whose single X chromosome is maternal) are more vulnerable to developmental disorders of language and social cognition, such as autism, than are 46,XX females8.
Suggested Citation
D. H. Skuse & R. S. James & D. V. M. Bishop & B. Coppin & P. Dalton & G. Aamodt-Leeper & M. Bacarese-Hamilton & C. Creswell & R. McGurk & P. A. Jacobs, 1997.
"Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function,"
Nature, Nature, vol. 387(6634), pages 705-708, June.
Handle:
RePEc:nat:nature:v:387:y:1997:i:6634:d:10.1038_42706
DOI: 10.1038/42706
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Citations
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Cited by:
- Chisato Hayashi & Soshiro Ogata & Haruka Tanaka & Kazuo Hayakawa, 2021.
"The Differential Heritability of Social Adjustment by Sex,"
IJERPH, MDPI, vol. 18(2), pages 1-15, January.
- Marc Luy & Paola Di Giulio, 2006.
"The impact of health behaviors and life quality on gender differences in mortality,"
MPIDR Working Papers
WP-2006-035, Max Planck Institute for Demographic Research, Rostock, Germany.
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