Sine-R.C2 (a homo sapiens specific retroposon) is homologous to CDNA from postmortem brain in schizophrenia and to two loci in the Xq21.3/Yp block linked to handedness and psychosis

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Title
Sine-R.C2 (a homo sapiens specific retroposon) is homologous to CDNA from postmortem brain in schizophrenia and to two loci in the Xq21.3/Yp block linked to handedness and psychosis
Author(s)
H S KIM; R V Wadekar; O Takenaka; C Winstanley; F Mitsunaga; T Kageyama; Byung Hwa Hyun; T J Crow
Bibliographic Citation
American Journal of Medical Genetics Part B-Neuropsychiatric Genetics, vol. 88, no. 5, pp. 560-566
Publication Year
1999
Abstract
We investigated the retroviral/retroposon hypothesis of schizophrenia by generating sequences with PCR primers based on a retroviral sequence recovered by Yee et al. [1998: Schizophr Res 29:92] from a cDNA library from postmortem brain tissue from an individual with psychosis in a genomic region (Xq21.3) that has been tentatively linked to schizophrenia and schizoaffective disorder by Laval et al. [1998: Am. J. Med. Genet. (Neuropsychiatr. Genet.) 81:420-427]. Within the block of homology with Yp that was generated by a transposition between the chimpanzee and Homo sapiens we find two sequences, HS307 and HS408, with a high degree of homology to but not identity with the schizophrenic brain cDNA. The closest match of these three sequences is to a family of retroposons, that has evolved from the HERV-K family of endogenous retroviruses, some members of which (e.g., SINE- R.C2) appear to be specific to the human genome. This element has been reported as a cause of Fukuyama-type muscular dystrophy [Kobayashi et al., 1998: Nature 394:388-392]. Such retroposons, as agents of change in the human genome, provide a strategy for investigating pathogenesis. On account of their genomic location in a region that has been subject to change in the course of hominid evolution, and that may have a relationship to psychosis and/or cerebral asymmetry, we conclude that these particular insertions deserve further investigation.
Keyword
retroposonSINE-R.C2schizophreniaXq21.3/Yp blockprimate
ISSN
1552-4841
Publisher
Wiley
DOI
http://dx.doi.org/10.1002/(SICI)1096-8628(19991015)88:5<560::AID-AJMG23>3.0.CO;2-W
Type
Article
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1. Journal Articles > Journal Articles
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