SINE-R.C2 (A Homo Sapiens Specific Retroposon) is Homologous to cDNA from Post-Mortem Brain in Schizophrenia and to Two Loci n the Xq21.3/Yp Block Linked to Handedness and Psychosis

SPECIFIC RETROPOSON) IS HOMOLOGOUS TO cDNA FROM POST-MORTEM BRAIN

IN SCHIZOPHRENIA AND TO TWO LOCI IN THE Xq21.3/Yp BLOCK

Rekha V. Wadekar¹, Osamu Takenaka²,

Catharine Winstanley³, Fusako Mitsunago²,

Takashi Kageyama², Byung-Hwa Hyun⁴, and

Psychiatry, Warneford Hospital, University of Oxford, Oxford,

United Kingdom; ²Department of Cellular and Molecular

Biology, Primate Research Institute, Kyoto University, Inuyama,

Japan; ³Department of Psychiatry and Physiology,

University of Oxford, Oxford, United Kingdom; ⁴Genetic

Resources Center, Korea Research Institute of Bioscience and

been derived from a human endogenous retrovirus HERV-K10. It is

absent in the genome of nonhuman primates and present within the

third intron of the human C2 gene which is located in the class

III region of the major histocompatibility complex we determined

the regional location of the human C2 gene. The analysis of the

Genebridge 4 radiation hybrid mapping panel using PCR

amplification located the C2 gene between D6S1422 (10.1cR) and

CHLC.GATA4A03 (21.3) with a lod score of > 3.0. This allowed

hypothesis of schizophrenia by generating sequences with PCR

primers based upon a retroviral sequence from a cDNA library form

post-mortem brain tissue from an individual with psychosis in a

genomic region (Xq21.3) that has been tentatively linked to

schizophrenia and schizo-affective disorder by Laval et al

(1998). Within the block of homology with Yp that was generated

by a transposition between the chimpanzee and Homo sapiens we

find HS307 and HS408 with a high degree of homology to the

schizophrenic brain cDNA. The closest match of these three

sequences is to a family of retrospons (including SINE-R.C2 and

SINE-R14) that appears to be specific to the human genome, and

that has evolved from the HERV-K family of endogenous

retroviruses, some members of which have been associated with