Exploring the potential relevance of human-specific genes to complex disease
<p>Abstract</p> <p>Although human disease genes generally tend to be evolutionarily more ancient than non-disease genes, complex disease genes appear to be represented more frequently than Mendelian disease genes among genes of more recent evolutionary origin. It is therefore propo...
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| Format: | Article |
| Language: | English |
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BMC
2011-01-01
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| Series: | Human Genomics |
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| Online Access: | http://www.humgenomics.com/content/5/2/99 |
| _version_ | 1798041576472051712 |
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| author | Cooper David N Kehrer-Sawatzki Hildegard |
| author_facet | Cooper David N Kehrer-Sawatzki Hildegard |
| author_sort | Cooper David N |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Although human disease genes generally tend to be evolutionarily more ancient than non-disease genes, complex disease genes appear to be represented more frequently than Mendelian disease genes among genes of more recent evolutionary origin. It is therefore proposed that the analysis of human-specific genes might provide new insights into the genetics of complex disease. Cross-comparison with the Human Gene Mutation Database (<url>http://www.hgmd.org</url>) revealed a number of examples of disease-causing and disease-associated mutations in putatively human-specific genes. A sizeable proportion of these were missense polymorphisms associated with complex disease. Since both human-specific genes and genes associated with complex disease have often experienced particularly rapid rates of evolutionary change, either due to weaker purifying selection or positive selection, it is proposed that a significant number of human-specific genes may play a role in complex disease.</p> |
| first_indexed | 2024-04-11T22:23:28Z |
| format | Article |
| id | doaj.art-1d14b6b4ec634c74815f67ece96ee137 |
| institution | Directory Open Access Journal |
| issn | 1479-7364 |
| language | English |
| last_indexed | 2024-04-11T22:23:28Z |
| publishDate | 2011-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Human Genomics |
| spelling | doaj.art-1d14b6b4ec634c74815f67ece96ee1372022-12-22T03:59:55ZengBMCHuman Genomics1479-73642011-01-01529910710.1186/1479-7364-5-2-99Exploring the potential relevance of human-specific genes to complex diseaseCooper David NKehrer-Sawatzki Hildegard<p>Abstract</p> <p>Although human disease genes generally tend to be evolutionarily more ancient than non-disease genes, complex disease genes appear to be represented more frequently than Mendelian disease genes among genes of more recent evolutionary origin. It is therefore proposed that the analysis of human-specific genes might provide new insights into the genetics of complex disease. Cross-comparison with the Human Gene Mutation Database (<url>http://www.hgmd.org</url>) revealed a number of examples of disease-causing and disease-associated mutations in putatively human-specific genes. A sizeable proportion of these were missense polymorphisms associated with complex disease. Since both human-specific genes and genes associated with complex disease have often experienced particularly rapid rates of evolutionary change, either due to weaker purifying selection or positive selection, it is proposed that a significant number of human-specific genes may play a role in complex disease.</p>http://www.humgenomics.com/content/5/2/99human-specific genesevolutiondisease genescomplex diseasemutationspolymorphisms |
| spellingShingle | Cooper David N Kehrer-Sawatzki Hildegard Exploring the potential relevance of human-specific genes to complex disease Human Genomics human-specific genes evolution disease genes complex disease mutations polymorphisms |
| title | Exploring the potential relevance of human-specific genes to complex disease |
| title_full | Exploring the potential relevance of human-specific genes to complex disease |
| title_fullStr | Exploring the potential relevance of human-specific genes to complex disease |
| title_full_unstemmed | Exploring the potential relevance of human-specific genes to complex disease |
| title_short | Exploring the potential relevance of human-specific genes to complex disease |
| title_sort | exploring the potential relevance of human specific genes to complex disease |
| topic | human-specific genes evolution disease genes complex disease mutations polymorphisms |
| url | http://www.humgenomics.com/content/5/2/99 |
| work_keys_str_mv | AT cooperdavidn exploringthepotentialrelevanceofhumanspecificgenestocomplexdisease AT kehrersawatzkihildegard exploringthepotentialrelevanceofhumanspecificgenestocomplexdisease |