Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function
Turner's syndrome is a sporadic disorder of human females in which all or part of one X chromosome is deleted. Intelligence is usually normal but social adjustment problems are common. Here we report a study of 80 females with Turner's syndrome and a single X chromosome, in 55 of which the...
| Main Authors: | , , , , , , , , , |
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| Format: | Journal article |
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Nature Publishing Group
1997
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| _version_ | 1797089952316522496 |
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| author | Skuse, D James, R Bishop, D Coppin, B Dalton, P Aamodt-Lepper, G Bacarese-Hamilton, M Cresswell, C McGurk, R Jacobs, P |
| author_facet | Skuse, D James, R Bishop, D Coppin, B Dalton, P Aamodt-Lepper, G Bacarese-Hamilton, M Cresswell, C McGurk, R Jacobs, P |
| author_sort | Skuse, D |
| collection | OXFORD |
| description | Turner's syndrome is a sporadic disorder of human females in which all or part of one X chromosome is deleted. Intelligence is usually normal but social adjustment problems are common. 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 interactions. Our observations suggest that there is a genetic locus for social cognition, which is imprinted 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 chromosome indicate that the putative imprinted locus escapes X-inactivation, 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 females. |
| first_indexed | 2024-03-07T03:11:27Z |
| format | Journal article |
| id | oxford-uuid:b45819a1-50b2-41aa-957c-e1f54736b335 |
| institution | University of Oxford |
| last_indexed | 2024-03-07T03:11:27Z |
| publishDate | 1997 |
| publisher | Nature Publishing Group |
| record_format | dspace |
| spelling | oxford-uuid:b45819a1-50b2-41aa-957c-e1f54736b3352022-03-27T04:25:26ZEvidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive functionJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:b45819a1-50b2-41aa-957c-e1f54736b335Symplectic Elements at OxfordNature Publishing Group1997Skuse, DJames, RBishop, DCoppin, BDalton, PAamodt-Lepper, GBacarese-Hamilton, MCresswell, CMcGurk, RJacobs, PTurner's syndrome is a sporadic disorder of human females in which all or part of one X chromosome is deleted. Intelligence is usually normal but social adjustment problems are common. 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 interactions. Our observations suggest that there is a genetic locus for social cognition, which is imprinted 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 chromosome indicate that the putative imprinted locus escapes X-inactivation, 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 females. |
| spellingShingle | Skuse, D James, R Bishop, D Coppin, B Dalton, P Aamodt-Lepper, G Bacarese-Hamilton, M Cresswell, C McGurk, R Jacobs, P Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function |
| title | Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function |
| title_full | Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function |
| title_fullStr | Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function |
| title_full_unstemmed | Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function |
| title_short | Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function |
| title_sort | evidence from turner s syndrome of an imprinted x linked locus affecting cognitive function |
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