Post by djoser-xyyman on Oct 6, 2015 14:03:58 GMT -5
A draft sequence of Neanderthal Genome – Green and Paabo et al
Figure S7 Prevalence of tooth shovelling and EDAR-Ala370 allele in 4 Sinodont populations. A great deal is known from the anthropological record about the physical traits regulated by the EDA pathway, particular teeth and to less extent hair, in human populations. There are two distinct tooth patterns common to Asia 1, defined by a phenomenon called "tooth shoveling," in which the back surface of the upper incisors has a "shovel" appearance.1 Shoveling consists of a "combination of a concave lingual surface and elevated marginal ridges enclosing a central fossa in the upper central incisor teeth." 2. The pattern is particular among the Sinodonts, a population that evolved from the Sundadonts (the original inhabitants of Asia) as they moved north and inland into Asia. Sinodonts evolved in present-day China, and they also migrated from the Asian mainland into Japan around 2,000 years ago. Native American populations came from Asia in at least two waves of migration,3 and may be in part populated by Sinodonts. High tooth shoveling frequencies have accordingly been reported in Sinodont populations in China-Mongolia, Japan, NE Siberia-Amur, Aleut-Eskimo, Greater NW Coast, North America, and South America. We had EDAR-Ala370 allele frequency data for four Sinodont populations, where tooth shovelling frequencies have been determined and examined the correlation. There are many limitations to this analysis. Only 4 populations (as well as Europe and Africa) frequencies are known. Moreover the samples are not the same and may reflect different subpopulations.
1. Turner, C. G., 2nd. Teeth and prehistory in Asia. Sci Am 260, 88-91, 94-6 (1989).
Figure S10 Analysis of oligonucleotide array data to assess CNVs in the candidate regions containing EDAR and SLC24A5. A) CNV was previously reported overlapping the EDAR region on BAC probes spanning 108.392-108.536 Mb1 and 107.908-108.682 Mb 37. Analysis of oligonucleotide array data showed that these observations were due to a 600-kb duplication variant spanning the 600kb region between segmentally duplicated sequence at 107.951-107.977 and 108.568-108.594 Mb (and therefore likely to have resulted from non-allelic homologous recombination between those sequences). The duplication allele was observed in two related YRI individuals (NA18870 and NA18872) but in no other HapMap samples, and is therefore unlikely to explain the signature of selection in this region. B) CNV was previously reported overlapping the SLC24A5 region, by a single BAC probe spanning 46.296-46.451 Mb2; however, despite the fact that this region contained 60 probes on the oligonucleotide array, we observed no evidence for a CNV in any of the HapMap samples in this region, and suggest that the earlier report is a false discovery.
Figure S7 Prevalence of tooth shovelling and EDAR-Ala370 allele in 4 Sinodont populations. A great deal is known from the anthropological record about the physical traits regulated by the EDA pathway, particular teeth and to less extent hair, in human populations. There are two distinct tooth patterns common to Asia 1, defined by a phenomenon called "tooth shoveling," in which the back surface of the upper incisors has a "shovel" appearance.1 Shoveling consists of a "combination of a concave lingual surface and elevated marginal ridges enclosing a central fossa in the upper central incisor teeth." 2. The pattern is particular among the Sinodonts, a population that evolved from the Sundadonts (the original inhabitants of Asia) as they moved north and inland into Asia. Sinodonts evolved in present-day China, and they also migrated from the Asian mainland into Japan around 2,000 years ago. Native American populations came from Asia in at least two waves of migration,3 and may be in part populated by Sinodonts. High tooth shoveling frequencies have accordingly been reported in Sinodont populations in China-Mongolia, Japan, NE Siberia-Amur, Aleut-Eskimo, Greater NW Coast, North America, and South America. We had EDAR-Ala370 allele frequency data for four Sinodont populations, where tooth shovelling frequencies have been determined and examined the correlation. There are many limitations to this analysis. Only 4 populations (as well as Europe and Africa) frequencies are known. Moreover the samples are not the same and may reflect different subpopulations.
1. Turner, C. G., 2nd. Teeth and prehistory in Asia. Sci Am 260, 88-91, 94-6 (1989).
Figure S10 Analysis of oligonucleotide array data to assess CNVs in the candidate regions containing EDAR and SLC24A5. A) CNV was previously reported overlapping the EDAR region on BAC probes spanning 108.392-108.536 Mb1 and 107.908-108.682 Mb 37. Analysis of oligonucleotide array data showed that these observations were due to a 600-kb duplication variant spanning the 600kb region between segmentally duplicated sequence at 107.951-107.977 and 108.568-108.594 Mb (and therefore likely to have resulted from non-allelic homologous recombination between those sequences). The duplication allele was observed in two related YRI individuals (NA18870 and NA18872) but in no other HapMap samples, and is therefore unlikely to explain the signature of selection in this region. B) CNV was previously reported overlapping the SLC24A5 region, by a single BAC probe spanning 46.296-46.451 Mb2; however, despite the fact that this region contained 60 probes on the oligonucleotide array, we observed no evidence for a CNV in any of the HapMap samples in this region, and suggest that the earlier report is a false discovery.