TABLE 2.
A summary of genetic adaptations reported in the Sherpa, and replication in other population(s) or species.
Genes name(s) |
Sherpa |
Other population(s) or species | Reference(s) | |
Sample Size | Reference(s) | |||
ACE | 105 | Droma et al., 2008 | Elite European descent athletes | Montgomery et al., 1998; Jones et al., 2002 |
HIF-la | 20 | Suzuki et al., 2003 | – | – |
eNOS | 105 | Droma et al., 2006 | ||
EPAS1 | 105 | Hanaoka et al., 2012 | Tibetan | Beall et al., 2010; Simonson et al., 2010; Yi et al., 2010; Bigham et al., 2010; Peng et al., 2011; Wang et al., 2011; Xu et al., 2011 |
51 | Jeong et al., 2014 | Deedu Mongolian | Xing et al., 2013 | |
582 | Bhandari et al., 2016 | Denisovan | Huerta-Sánchez et al., 2014 | |
3.4 kb Copy Number Deletion-80 kb downstream of EPAS1 | 582 | Bhandari et al., 2016 | Tibetan | Lou et al., 2015 |
EGLN1 | 51 | Jeong et al., 2014 | Tibetan | Lorenzo, 2010; Simonson et al., 2010; Yi et al., 2010; Xiang et al., 2013; Lorenzo et al., 2014 |
582 | Bhandari et al., 2016 | Andean | Bigham et al., 2009; Bigham et al., 2010 | |
111 | Zhang et al., 2017 | Daghestani | Pagani et al., 2012 | |
PPARA | 15 | Horscroft et al., 2017 | Tibetan | Simonson et al., 2010; Peng et al., 2011 |
Kinota et al., 2018 | (Amhara and Omotic) Ethiopian | Scheinfeldt et al., 2012 | ||
HYOUI/HMBS | 51 | Jeong et al., 2014 | – | – |
EPAS1, EGLN1, DLG1, MARCH8, CDCA7L, HEATR5B, EDAR, ZNF644, TTC24, TMEM247, OXR1, ALDH31 | 111 | Zhang et al., 2017 | – | – |
NOS1 | 111 | Zhang et al., 2017 | Tibetan (GCH1), Andeans (NOS2) | Bigham et al., 2009; [opetwcitep]B20,B59[clotwcitep]Bigham et al., 2010; He et al., 2018 |
ANGPT1 | 111 | Zhang et al., 2017 | Tibetan and grey wolves of TAR, China | Jeansson et al., 2011; Wang et al., 2011 |
EPAS1, EGLN1, RP11-384F7.2 AC068633.1, ZNF53 2, HLA-DOB1/HLA-DPB1 | 10 | Arciero et al., 2018 | – | – |
ANKH | 10 | Arciero et al., 2018 | Pigs of TAR, China | Ai et al., 2014 |
GRB2 | 10 | Arciero et al., 2018 | Tibetans | Li et al., 2016 |
Polygeneic Adaptation {Gene subnetworks like the nested integrin associated pathways (i.e., Integrin β-1, Integral α6−β4 and Integrin involved in angiogenesis),CMYB and C-MYC transcription factor pathways} | 31 | Gnecchi-Ruscone et al., 2017, 2018 | Tibetans | Gnecchi-Ruscone et al., 2018 |
EPAS1, EGLN1.CCDC141,PAPOLA, VRK1, C6orf195, CTBP2, TEX36, EDRF1 | 103 | Jeong et al., 2018 | Tibetans | Jeong et al., 2018 |