Molecular characterization of a 2.7-kb, 12q13-specific, retroviral-related sequence isolated by RDA from monozygotic twin pairs discordant for schizophrenia
Bibliographic record
Abstract
This report deals with the molecular characterization of a representational difference analysis (RDA)-derived sequence (SZRV-2, GenBank accession No. AF135486; Genome Database accession Nos. 7692183 and 7501402) from three monozygotic twin pairs discordant for schizophrenia (MZD). The results suggest that it is a primate-specific, heavily methylated, and placentally expressed (-7-kb mRNA) endogenous retroviral-related (ERV) sequence of the human genome. We have mapped this sequence to 12q13 using two SZRV-2 positive BAC clones (4K11 (Genome Survey Sequence Database No. 1752076; GenBank accession No. AZ301773) and 501H16) by fluorescence in situ hybridization. End sequencing of the 4K11 BAC clone has allowed identification of nearby genes from the human genome database at NCBI that may be of interest in schizophrenia research. These include viral-related sequences (potential hot spots for insertions), developmental, channel, and signal transduction genes, as well as genes affecting expression of certain receptors in neurons. Furthermore, when used as a probe on Southern blots, SZRV-2 detected no difference between schizophrenia patients from southwestern Ontario and their matched controls. However, it identified aberrant methylation in one of the eight patients and none of the 21 unaffected controls. Although additional experiments will be required to establish the significance, if any, of SZRV-2 methylation in the complex etiology of schizophrenia, molecular results included offer a novel insight into the role of retroviral-related sequences in the origin, organization, and regulation of the human genome.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".