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Molecular population genetics of SLC4A1 and Southeast Asian Ovalocytosis
by
Ratcliffe, Hannah L
, Stone, Jonathan A
, Finn, Lauren E
, Wilder, Jason A
, Sudoyo, Herawati
, Preston, Elizabeth G
in
Alleles
/ Anion Exchange Protein 1, Erythrocyte - genetics
/ Asian Continental Ancestry Group - genetics
/ Base Sequence
/ Biomedical and Life Sciences
/ Biomedicine
/ Chromosomes
/ Divergence
/ Elliptocytosis
/ Elliptocytosis, Hereditary - genetics
/ Gene deletion
/ Gene Expression
/ Gene frequency
/ Gene Function
/ Gene Therapy
/ Genetic Variation
/ Genetics, Population
/ Geography
/ Haplotypes
/ Haplotypes - genetics
/ Human Genetics
/ Humans
/ Indonesia
/ Japan
/ Malaria
/ Molecular Medicine
/ Molecular Sequence Data
/ Natural selection
/ original-article
/ Population genetics
/ Taiwan
2009
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Molecular population genetics of SLC4A1 and Southeast Asian Ovalocytosis
by
Ratcliffe, Hannah L
, Stone, Jonathan A
, Finn, Lauren E
, Wilder, Jason A
, Sudoyo, Herawati
, Preston, Elizabeth G
in
Alleles
/ Anion Exchange Protein 1, Erythrocyte - genetics
/ Asian Continental Ancestry Group - genetics
/ Base Sequence
/ Biomedical and Life Sciences
/ Biomedicine
/ Chromosomes
/ Divergence
/ Elliptocytosis
/ Elliptocytosis, Hereditary - genetics
/ Gene deletion
/ Gene Expression
/ Gene frequency
/ Gene Function
/ Gene Therapy
/ Genetic Variation
/ Genetics, Population
/ Geography
/ Haplotypes
/ Haplotypes - genetics
/ Human Genetics
/ Humans
/ Indonesia
/ Japan
/ Malaria
/ Molecular Medicine
/ Molecular Sequence Data
/ Natural selection
/ original-article
/ Population genetics
/ Taiwan
2009
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Molecular population genetics of SLC4A1 and Southeast Asian Ovalocytosis
by
Ratcliffe, Hannah L
, Stone, Jonathan A
, Finn, Lauren E
, Wilder, Jason A
, Sudoyo, Herawati
, Preston, Elizabeth G
in
Alleles
/ Anion Exchange Protein 1, Erythrocyte - genetics
/ Asian Continental Ancestry Group - genetics
/ Base Sequence
/ Biomedical and Life Sciences
/ Biomedicine
/ Chromosomes
/ Divergence
/ Elliptocytosis
/ Elliptocytosis, Hereditary - genetics
/ Gene deletion
/ Gene Expression
/ Gene frequency
/ Gene Function
/ Gene Therapy
/ Genetic Variation
/ Genetics, Population
/ Geography
/ Haplotypes
/ Haplotypes - genetics
/ Human Genetics
/ Humans
/ Indonesia
/ Japan
/ Malaria
/ Molecular Medicine
/ Molecular Sequence Data
/ Natural selection
/ original-article
/ Population genetics
/ Taiwan
2009
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Molecular population genetics of SLC4A1 and Southeast Asian Ovalocytosis
Journal Article
Molecular population genetics of SLC4A1 and Southeast Asian Ovalocytosis
2009
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Overview
Southeast Asian ovalocytosis (SAO) is an erythrocyte abnormality that protects affected individuals from cerebral malaria. This trait is caused by a 27-bp deletion in the
SLC4A1
gene, which is lethal when homozygous. We reseqeunced approximately 5 kb of
SLC4A1
in an Indonesian population where SAO is prevalent to better understand the evolution of this clinically important trait. The four SAO chromosomes we resequenced share a single haplotype that differs from a sampled non-SAO haplotype only by the 27-bp deletion. Comparison of Indonesian sequence data to that from two other Asian populations (aboriginal Taiwanese and Japanese) shows Indonesian
SLC4A1
to be strongly differentiated from the Taiwanese, but not the Japanese. Indeed, the Taiwanese sample contains only chromosomes that are highly divergent from all sampled SAO chromosomes. Because earlier studies have found an association between Austronesian-speakers (who most likely originated in Taiwan) and SAO, our failure to find SAO-like chromosomes in Taiwan is unexpected. Finally, our data find a strong excess of high-frequency derived alleles in all three populations. These alleles include the non-synonymous ‘Memphis’ variant, which is known to affect anion transport across the erythrocyte membrane. Our data suggest a role for recent natural selection acting on Memphis or a linked variant.
Publisher
Nature Publishing Group UK,Nature Publishing Group
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