Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching
Abstract
Cross-species comparison is an effective tool used to identify genes and study their function in both normal and pathological conditions. We have applied the power of Drosophila genetics to the vast resource of human cDNAs represented in the expressed sequence tag (EST) database (dbEST) to identify novel human genes of high biological interest. Sixty-six human cDNAs showing significant homology to genes causing Drosophila mutant phenotypes were identified by screening dbEST using the "text string' option, and their map position was determined using both fluorescence in situ hybridization (FISH) and radiation hybrid mapping. Comparison between these genes and their putative partners in Drosophila may provide important insights into their function in mammals. Furthermore, integration of these genes into the transcription map of the human genome contributes to the positional candidate approach for disease gene identification.
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NLK is an evolutionarily conserved serine/threonine protein kinase.
“NLK is an evolutionarily conserved serine/threonine protein kinase (Choi and Benzer, 1994; Banfi et al., 1996; Brott et al., 1998; Meneghini et al., 1999).”
From Polyglutamine Disease Toxicity Is Regulated by Nemo-like Kinase in Spinocerebellar Ataxia Type 1 (2013) · cites this paper as Banfi et al., 1996
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<i>DPC4</i> , A Candidate Tumor Suppressor Gene at Human Chromosome 18q21.1
Hahn, S. A., Schutte, M., Shamsul Hoque, A. T. M., Moskaluk, C. A., da Costa, L. T., Rozenblum, E., Weinstein, C. L., Fischer, A., Yeo, C. J., Hruban, R. H., et al. (1996) · Science · doi:10.1126/science.271.5247.350 · Cited by 2,337 · see citing works
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Mushegian, A. R., Garey, J. R., Martin, J., & Liu, L. X. (1998) · Genome Research · doi:10.1101/gr.8.6.590 · Cited by 164 · see citing works
Polyglutamine Disease Toxicity Is Regulated by Nemo-like Kinase in Spinocerebellar Ataxia Type 1
Ju, H., Kokubu, H., Todd, T. W., Kahle, J. J., Kim, S., Richman, R., Chirala, K., Orr, H. T., Zoghbi, H. Y., & Lim, J. (2013) · The Journal of Neuroscience · doi:10.1523/jneurosci.3465-12.2013 · Cited by 31 · see citing works
“NLK is an evolutionarily conserved serine/ threonine protein kinase (Choi and Benzer, 1994; Banfi et al., 1996; Brott et al., 1998; Meneghini et al., 1999).”
- Authors
- Banfi, S., Borsani, G., Rossi, E., Bernard, L., Guffanti, A., Rubboli, F., Marchitiello, A., Giglio, S., Coluccia, E., Zollo, M., Zuffardi, O., & Ballabio, A.
- Affiliations
- Telethon Institute Of Genetics And Medicine (IT)
- University of Pavia (IT)
- University of Siena (IT)
- Corresponding author
- Ballabio, Andrea
- ORCID
- Venue
- Nature Genetics
- Published
- 1996-06
- Volume
- 13
- Issue
- 2
- Pages
- 167-174
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2048764636
- Cited by
- 189
- References
- 1
- Citations by year
- 2025: 1 · 2024: 2 · 2023: 1 · 2022: 1 · 2021: 4 · 2020: 1 · 2019: 2 · 2018: 2 · 2017: 2 · 2016: 2 · 2015: 1 · 2014: 2 · 2013: 4 · 2012: 1
- FWCI
- 12.59
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Florence Research (University of Florence) (submittedVersion)
- Institutional Research Information System (Università degli Studi di Brescia) (submittedVersion)
- UNICA IRIS Institutional Research Information System (University of Cagliari) (submittedVersion)
- Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- human cDNA, cross-species comparison, expressed sequence tags, gene mapping, radiation hybrid mapping, fluorescence in situ hybridization, positional candidate genes, disease gene identification, gene homology
- MeSH terms
- Amino Acid Sequence, Animals, Chromosome Mapping, Computer Communication Networks, Drosophila melanogaster, Humans, Hybrid Cells, Models, Genetic, Molecular Sequence Data, Mutation, Phenotype, Sequence Homology, Nucleic Acid, Databases, Factual, Sequence Alignment, Genes, Insect, Sequence Homology, Amino Acid, In Situ Hybridization, Fluorescence, DNA, Complementary
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