Microsatellite mutations and inferences about human demography.
Microsatellites have been widely used as tools for population studies. However, inference about population processes relies on the specification of mutation parameters that are largely unknown and likely to differ across loci. Here, we use data on somatic mutations to investigate the mutation proces...
| Main Authors: | , , , |
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| Format: | Journal article |
| Language: | English |
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2000
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| _version_ | 1797080858442596352 |
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| author | Gonser, R Donnelly, P Nicholson, G Di Rienzo, A |
| author_facet | Gonser, R Donnelly, P Nicholson, G Di Rienzo, A |
| author_sort | Gonser, R |
| collection | OXFORD |
| description | Microsatellites have been widely used as tools for population studies. However, inference about population processes relies on the specification of mutation parameters that are largely unknown and likely to differ across loci. Here, we use data on somatic mutations to investigate the mutation process at 14 tetranucleotide repeats and carry out an advanced multilocus analysis of different demographic scenarios on worldwide population samples. We use a method based on less restrictive assumptions about the mutation process, which is more powerful to detect departures from the null hypothesis of constant population size than other methods previously applied to similar data sets. We detect a signal of population expansion in all samples examined, except for one African sample. As part of this analysis, we identify an "anomalous" locus whose extreme pattern of variation cannot be explained by variability in mutation size. Exaggerated mutation rate is proposed as a possible cause for its unusual variation pattern. We evaluate the effect of using it to infer population histories and show that inferences about demographic histories are markedly affected by its inclusion. In fact, exclusion of the anomalous locus reduces interlocus variability of statistics summarizing population variation and strengthens the evidence in favor of demographic growth. |
| first_indexed | 2024-03-07T01:06:15Z |
| format | Journal article |
| id | oxford-uuid:8b718249-8f16-4252-a845-68ca23e376f2 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T01:06:15Z |
| publishDate | 2000 |
| record_format | dspace |
| spelling | oxford-uuid:8b718249-8f16-4252-a845-68ca23e376f22022-03-26T22:38:03ZMicrosatellite mutations and inferences about human demography.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:8b718249-8f16-4252-a845-68ca23e376f2EnglishSymplectic Elements at Oxford2000Gonser, RDonnelly, PNicholson, GDi Rienzo, AMicrosatellites have been widely used as tools for population studies. However, inference about population processes relies on the specification of mutation parameters that are largely unknown and likely to differ across loci. Here, we use data on somatic mutations to investigate the mutation process at 14 tetranucleotide repeats and carry out an advanced multilocus analysis of different demographic scenarios on worldwide population samples. We use a method based on less restrictive assumptions about the mutation process, which is more powerful to detect departures from the null hypothesis of constant population size than other methods previously applied to similar data sets. We detect a signal of population expansion in all samples examined, except for one African sample. As part of this analysis, we identify an "anomalous" locus whose extreme pattern of variation cannot be explained by variability in mutation size. Exaggerated mutation rate is proposed as a possible cause for its unusual variation pattern. We evaluate the effect of using it to infer population histories and show that inferences about demographic histories are markedly affected by its inclusion. In fact, exclusion of the anomalous locus reduces interlocus variability of statistics summarizing population variation and strengthens the evidence in favor of demographic growth. |
| spellingShingle | Gonser, R Donnelly, P Nicholson, G Di Rienzo, A Microsatellite mutations and inferences about human demography. |
| title | Microsatellite mutations and inferences about human demography. |
| title_full | Microsatellite mutations and inferences about human demography. |
| title_fullStr | Microsatellite mutations and inferences about human demography. |
| title_full_unstemmed | Microsatellite mutations and inferences about human demography. |
| title_short | Microsatellite mutations and inferences about human demography. |
| title_sort | microsatellite mutations and inferences about human demography |
| work_keys_str_mv | AT gonserr microsatellitemutationsandinferencesabouthumandemography AT donnellyp microsatellitemutationsandinferencesabouthumandemography AT nicholsong microsatellitemutationsandinferencesabouthumandemography AT dirienzoa microsatellitemutationsandinferencesabouthumandemography |