A Non-Synonymous HMGA2 Variant Decreases Height in Shetland Ponies and Other Small Horses (original) (raw)

“…As a core transcription factor in embryonic stem cells, ZNF281 (zinc finger protein 281) was found to be related to spontaneous osteochondrogenic differentiation [38]. Other studies showed the strong association of LCORL/NCAPG, HMGA2, PROP1, LASP [39], ZFAT, DIAPH3 [40], ACTN2, ADAMTS17, GH1, ANKRD1 [40], and ACAN [41,42] with miniature size and dwarfism in a variety of pony breeds, including Shetland [41,43], miniature [44], Welsh ponies [45], German warmblood horses [46], American miniature horses, Brazilian ponies [47], and Jeju ponies [48], as well as B4GALT7 [49] and PROP1 [50] in Friesian horses. These genes were not found in this study, which may be due to the expression specificity of lncRNAs in different horse breeds [27] and different omics levels, since TBX3, under strong selection in Chinese ponies, was also identified in this study.…”

Section: Discussionmentioning

“…As a core transcription factor in embryonic stem cells, ZNF281 (zinc finger protein 281) was found to be related to spontaneous osteochondrogenic differentiation [38]. Other studies showed the strong association of LCORL/NCAPG, HMGA2, PROP1, LASP [39], ZFAT, DIAPH3 [40], ACTN2, ADAMTS17, GH1, ANKRD1 [40], and ACAN [41,42] with miniature size and dwarfism in a variety of pony breeds, including Shetland [41,43], miniature [44], Welsh ponies [45], German warmblood horses [46], American miniature horses, Brazilian ponies [47], and Jeju ponies [48], as well as B4GALT7 [49] and PROP1 [50] in Friesian horses. These genes were not found in this study, which may be due to the expression specificity of lncRNAs in different horse breeds [27] and different omics levels, since TBX3, under strong selection in Chinese ponies, was also identified in this study.…”

Section: Discussionmentioning

“…Although genome-wide association studies in humans have shown that body size is a highly polygenic trait, it is striking how notoriously HMGA2 has been associated with variation in body size across species (Zhou et al 1995;Alyaqoub et al 2012;Frischknecht et al 2015;Webster et al 2015), including in humans (Buysse et al 2009). We propose that HMGA2 is a major regulator of body size in mammals and probably in other vertebrates because of an important role in regulating growth combined with minimal, if any, negative pleiotropic effects on other traits.…”

Section: Discussionmentioning

“…Moreover, it was reported that high mobility group AT-hook 2 gene ( HMGA2 ) carries a SNP associated with height in Shetland Pony [50]. HMGA2 also down-regulates the expression of miR-200b [51].…”

Section: Discussionmentioning