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Mendeley readers
| Title |
Sequence variation in human succinate dehydrogenase genes: evidence for long-term balancing selection on SDHA
|
|---|---|
| Published in |
BMC Biology, March 2007
|
| DOI | 10.1186/1741-7007-5-12 |
| Pubmed ID | |
| Authors |
Bora E Baysal, Elizabeth C Lawrence, Robert E Ferrell |
| Abstract |
Balancing selection operating for long evolutionary periods at a locus is characterized by the maintenance of distinct alleles because of a heterozygote or rare-allele advantage. The loci under balancing selection are distinguished by their unusually high polymorphism levels. In this report, we provide statistical and comparative genetic evidence suggesting that the SDHA gene is under long-term balancing selection. SDHA encodes the major catalytical subunit (flavoprotein, Fp) of the succinate dehydrogenase enzyme complex (SDH; mitochondrial complex II). The inhibition of Fp by homozygous SDHA mutations or by 3-nitropropionic acid poisoning causes central nervous system pathologies. In contrast, heterozygous mutations in SDHB, SDHC, and SDHD, the other SDH subunit genes, cause hereditary paraganglioma (PGL) tumors, which show constitutive activation of pathways induced by oxygen deprivation (hypoxia). |
Mendeley readers
The data shown below were compiled from readership statistics for 37 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 2 | 5% |
| Malaysia | 1 | 3% |
| Netherlands | 1 | 3% |
| Czechia | 1 | 3% |
| Unknown | 32 | 86% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 11 | 30% |
| Student > Ph. D. Student | 10 | 27% |
| Student > Bachelor | 7 | 19% |
| Professor | 2 | 5% |
| Other | 2 | 5% |
| Other | 3 | 8% |
| Unknown | 2 | 5% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 15 | 41% |
| Biochemistry, Genetics and Molecular Biology | 10 | 27% |
| Medicine and Dentistry | 5 | 14% |
| Computer Science | 2 | 5% |
| Mathematics | 1 | 3% |
| Other | 3 | 8% |
| Unknown | 1 | 3% |