Evidence of early-stage selection on EPAS1 and GPR126 genes in Andean high altitude populations
The aim of this study is to identify genetic variants that harbour signatures of recent positive selection and may facilitate physiological adaptations to hypobaric hypoxia. To achieve this, we conducted whole genome sequencing and lung function tests in 19 Argentinean highlanders (>3500 m) compa...
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
12 October 2017
|
| In: |
Scientific reports
Year: 2017, Jahrgang: 7 |
| ISSN: | 2045-2322 |
| DOI: | 10.1038/s41598-017-13382-4 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: http://dx.doi.org/10.1038/s41598-017-13382-4 Verlag, kostenfrei, Volltext: https://www.nature.com/articles/s41598-017-13382-4 
|
| Verfasserangaben: | Christina A. Eichstaedt, Luca Pagani, Tiago Antao, Charlotte E. Inchley, Alexia Cardona, Alexander Mörseburg, Florian J. Clemente, Timothy J. Sluckin, Ene Metspalu, Mario Mitt, Reedik Mägi, Georgi Hudjashov, Mait Metspalu, Maru Mormina, Guy S. Jacobs & Toomas Kivisild |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1584596627 | ||
| 003 | DE-627 | ||
| 005 | 20220815070645.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 181128s2017 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1038/s41598-017-13382-4 |2 doi | |
| 035 | |a (DE-627)1584596627 | ||
| 035 | |a (DE-576)514596627 | ||
| 035 | |a (DE-599)BSZ514596627 | ||
| 035 | |a (OCoLC)1341024531 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Eichstaedt, Christina |e VerfasserIn |0 (DE-588)1110189419 |0 (DE-627)864806752 |0 (DE-576)47573503X |4 aut | |
| 245 | 1 | 0 | |a Evidence of early-stage selection on EPAS1 and GPR126 genes in Andean high altitude populations |c Christina A. Eichstaedt, Luca Pagani, Tiago Antao, Charlotte E. Inchley, Alexia Cardona, Alexander Mörseburg, Florian J. Clemente, Timothy J. Sluckin, Ene Metspalu, Mario Mitt, Reedik Mägi, Georgi Hudjashov, Mait Metspalu, Maru Mormina, Guy S. Jacobs & Toomas Kivisild |
| 264 | 1 | |c 12 October 2017 | |
| 300 | |a 9 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 28.11.2018 | ||
| 520 | |a The aim of this study is to identify genetic variants that harbour signatures of recent positive selection and may facilitate physiological adaptations to hypobaric hypoxia. To achieve this, we conducted whole genome sequencing and lung function tests in 19 Argentinean highlanders (>3500 m) comparing them to 16 Native American lowlanders. We developed a new statistical procedure using a combination of population branch statistics (PBS) and number of segregating sites by length (nSL) to detect beneficial alleles that arose since the settlement of the Andes and are currently present in 15-50% of the population. We identified two missense variants as significant targets of selection. One of these variants, located within the GPR126 gene, has been previously associated with the forced expiratory volume/forced vital capacity ratio. The other novel missense variant mapped to the EPAS1 gene encoding the hypoxia inducible factor 2α. EPAS1 is known to be the major selection candidate gene in Tibetans. The derived allele of GPR126 is associated with lung function in our sample of highlanders (p < 0.05). These variants may contribute to the physiological adaptations to hypobaric hypoxia, possibly by altering lung function. The new statistical approach might be a useful tool to detect selected variants in population studies. | ||
| 773 | 0 | 8 | |i Enthalten in |t Scientific reports |d [London] : Springer Nature, 2011 |g 7(2017), Artikel-ID 13042 |h Online-Ressource |w (DE-627)663366712 |w (DE-600)2615211-3 |w (DE-576)346641179 |x 2045-2322 |7 nnas |a Evidence of early-stage selection on EPAS1 and GPR126 genes in Andean high altitude populations |
| 773 | 1 | 8 | |g volume:7 |g year:2017 |g elocationid:13042 |g extent:9 |a Evidence of early-stage selection on EPAS1 and GPR126 genes in Andean high altitude populations |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1038/s41598-017-13382-4 |x Verlag |x Resolving-System |z kostenfrei |3 Volltext |
| 856 | 4 | 0 | |u https://www.nature.com/articles/s41598-017-13382-4 |x Verlag |z kostenfrei |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20181128 | ||
| 993 | |a Article | ||
| 994 | |a 2017 | ||
| 998 | |g 1110189419 |a Eichstaedt, Christina |m 1110189419:Eichstaedt, Christina |d 910000 |d 950000 |d 950900 |e 910000PE1110189419 |e 950000PE1110189419 |e 950900PE1110189419 |k 0/910000/ |k 1/910000/950000/ |k 2/910000/950000/950900/ |p 1 |x j | ||
| 999 | |a KXP-PPN1584596627 |e 3035922098 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"id":{"doi":["10.1038/s41598-017-13382-4"],"eki":["1584596627"]},"language":["eng"],"person":[{"role":"aut","family":"Eichstaedt","display":"Eichstaedt, Christina","roleDisplay":"VerfasserIn","given":"Christina"}],"recId":"1584596627","name":{"displayForm":["Christina A. Eichstaedt, Luca Pagani, Tiago Antao, Charlotte E. Inchley, Alexia Cardona, Alexander Mörseburg, Florian J. Clemente, Timothy J. Sluckin, Ene Metspalu, Mario Mitt, Reedik Mägi, Georgi Hudjashov, Mait Metspalu, Maru Mormina, Guy S. Jacobs & Toomas Kivisild"]},"title":[{"title":"Evidence of early-stage selection on EPAS1 and GPR126 genes in Andean high altitude populations","title_sort":"Evidence of early-stage selection on EPAS1 and GPR126 genes in Andean high altitude populations"}],"origin":[{"dateIssuedDisp":"12 October 2017","dateIssuedKey":"2017"}],"type":{"media":"Online-Ressource","bibl":"article-journal"},"note":["Gesehen am 28.11.2018"],"relHost":[{"disp":"Evidence of early-stage selection on EPAS1 and GPR126 genes in Andean high altitude populationsScientific reports","language":["eng"],"id":{"issn":["2045-2322"],"eki":["663366712"],"zdb":["2615211-3"]},"pubHistory":["1, article number 1 (2011)-"],"note":["Gesehen am 12.07.24"],"type":{"bibl":"periodical","media":"Online-Ressource"},"origin":[{"dateIssuedDisp":"2011-","dateIssuedKey":"2011","publisher":"Springer Nature ; Nature Publishing Group","publisherPlace":"[London] ; London"}],"physDesc":[{"extent":"Online-Ressource"}],"part":{"volume":"7","year":"2017","extent":"9","text":"7(2017), Artikel-ID 13042"},"title":[{"title_sort":"Scientific reports","title":"Scientific reports"}],"recId":"663366712"}],"physDesc":[{"extent":"9 S."}]} | ||
| SRT | |a EICHSTAEDTEVIDENCEOF1220 | ||