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Your search keyword '"Deb-Rinker, P."' showing total 2 results
Start Over Author "Deb-Rinker, P." Journal genomics
2 results on '"Deb-Rinker, P."'

1. Molecular Characterization of a MSRV-like Sequence Identified by RDA from Monozygotic Twin Pairs Discordant for Schizophrenia

Author

Deb-Rinker, Paromita, Klempan, Timothy A., O'Reilly, Richard L., Torrey, E.Fuller, and Singh, Shiva M.

Abstract

Retroviral-related amplicons were used in modified RDA to identify four sequences from affected members of three pairs of monozygotic twins discordant for schizophrenia. One sequence (schizophrenia associated retrovirus, SZRV-1, GenBank Accession No. AF135487) is characterized here. It is similar to two known sequences of retroviral origin: multiple sclerosis-associated retrovirus, MSRV (GenBank Accession No. AF009668), and ERV-9 (GenBank Accession No. S77575). It is present in multiple copies in the human genome and has been localized to six different chromosomal sites. A zooblot shows that this multicopy sequence is predominant in the primate lineage and present in rhesus monkeys and humans. SZRV-1 is expressed as a 9-kb RNA band in the placenta. This could offer support to the hypothesis that retroviral sequences transposing during fetal growth may alter neurodevelopmental genes and cause diseases, although its direct involvement in the causation of schizophrenia remains to be established.

Published
1999
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2. Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.

Author

Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, and Scherer SW

Subjects
Amino Acid Sequence, Animals, Body Height genetics, Chromosome Aberrations, Cytogenetic Analysis, Facies, Humans, Hybrid Cells, In Situ Hybridization, Fluorescence, Mice, Molecular Sequence Data, Sequence Analysis, DNA, Sequence Homology, Amino Acid, Syndrome, Abnormalities, Multiple genetics, Chromosomes, Human, Pair 7
Abstract

Russell-Silver syndrome (RSS) is a form of congenital short stature characterized by severe growth retardation and variable dysmorphic features. In some RSS individuals, alterations in imprinted genes may be involved because approximately 7% of sporadic patients have been observed to have maternal uniparental disomy (mUPD) of chromosome 7. RSS patients with structural abnormalities of chromosome 7 have also been described. In these individuals the chromosome rearrangement could disrupt the balance of imprinted genes, contribute to a recessive form of RSS, or lead to haploinsufficiency of a crucial developmental gene product. Because the mechanism and molecular defects on chromosome 7 causing RSS are still unknown, we tested our collection of 77 RSS families for mUPD7 and were able to identify three new cases. We also characterized two RSS patients with de novo cytogenetic abnormalities involving the short arm of chromosome 7. One had a partial duplication [46, XX, dup(7)(p12 p14)] and the second contained a paracentric inversion [46, XY, inv(7)(p14 p21)]. Fluorescence in situ hybridization (FISH) mapping revealed that the breakpoints on 7p14 were localized to the same novel gene, C7orf10, which encompasses >700 kb of DNA. We also identified other transcription units from this immediate region, but all seem to be biallelically expressed when using a somatic cell hybrid assay.

Published
2002
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