A single-nucleotide mutation within the TBX3 enhancer increased body size in Chinese horses
Chinese ponies are endemic to the mountainous areas of southwestern China and were first reported in the archaeological record at the Royal Tomb of Zhongshan King, Mancheng, dated to approximately ∼2,100 YBP.1 Previous work has started uncovering the genetic basis of size variation in western ponies...
| Autores principales: | , , , , , , , , , |
|---|---|
| Formato: | Journal Article |
| Lenguaje: | Inglés |
| Publicado: |
Elsevier
2022
|
| Materias: | |
| Acceso en línea: | https://hdl.handle.net/10568/116828 |
| _version_ | 1855528861016522752 |
|---|---|
| author | Xuexue Liu Yanli Zhang Wujun Liu Yefang Li Jianfei Pan Yabin Pu Han Jianlin Orlando, L. Yuehui Ma Lin Jiang |
| author_browse | Han Jianlin Jianfei Pan Lin Jiang Orlando, L. Wujun Liu Xuexue Liu Yabin Pu Yanli Zhang Yefang Li Yuehui Ma |
| author_facet | Xuexue Liu Yanli Zhang Wujun Liu Yefang Li Jianfei Pan Yabin Pu Han Jianlin Orlando, L. Yuehui Ma Lin Jiang |
| author_sort | Xuexue Liu |
| collection | Repository of Agricultural Research Outputs (CGSpace) |
| description | Chinese ponies are endemic to the mountainous areas of southwestern China and were first reported in the archaeological record at the Royal Tomb of Zhongshan King, Mancheng, dated to approximately ∼2,100 YBP.1 Previous work has started uncovering the genetic basis of size variation in western ponies and horses, revealing a limited number of loci, including HMGA2,2LCORL/NCAPG,3ZFAT, and LASP1.4,5 Whether the same genetic pathways also drive the small body size of Chinese ponies, which show striking anatomical differences to Shetland ponies,6 remains unclear.2,7 To test this, we combined whole-genome sequences of 187 horses across China. Statistical analyses revealed top association between genetic variation at the T-box transcription factor 3 (TBX3) and the body size. Fine-scale analysis across an extended population of 189 ponies and 574 horses narrowed down the association to one A/G SNP at an enhancer region upstream of the TBX3 (ECA8:20,644,555, p = 2.34e-39). Luciferase assays confirmed the single-nucleotide G mutation upregulating TBX3 expression, and enhancer-knockout mice exhibited shorter limbs than wild-type littermates (p < 0.01). Re-analysis of ancient DNA data showed that the G allele, which is most frequent in modern horses, first occurred some ∼2,300 years ago and rose in frequency since. This supports selection for larger size in Asia from approximately the beginning of the Chinese Empire. Overall, this study characterized the causal regulatory mutation underlying small body size in Chinese ponies and revealed size as one of the main selection targets of past Chinese breeders. |
| format | Journal Article |
| id | CGSpace116828 |
| institution | CGIAR Consortium |
| language | Inglés |
| publishDate | 2022 |
| publishDateRange | 2022 |
| publishDateSort | 2022 |
| publisher | Elsevier |
| publisherStr | Elsevier |
| record_format | dspace |
| spelling | CGSpace1168282025-12-08T09:54:28Z A single-nucleotide mutation within the TBX3 enhancer increased body size in Chinese horses Xuexue Liu Yanli Zhang Wujun Liu Yefang Li Jianfei Pan Yabin Pu Han Jianlin Orlando, L. Yuehui Ma Lin Jiang animal breeding breeds horses nucleotide sequence mutation Chinese ponies are endemic to the mountainous areas of southwestern China and were first reported in the archaeological record at the Royal Tomb of Zhongshan King, Mancheng, dated to approximately ∼2,100 YBP.1 Previous work has started uncovering the genetic basis of size variation in western ponies and horses, revealing a limited number of loci, including HMGA2,2LCORL/NCAPG,3ZFAT, and LASP1.4,5 Whether the same genetic pathways also drive the small body size of Chinese ponies, which show striking anatomical differences to Shetland ponies,6 remains unclear.2,7 To test this, we combined whole-genome sequences of 187 horses across China. Statistical analyses revealed top association between genetic variation at the T-box transcription factor 3 (TBX3) and the body size. Fine-scale analysis across an extended population of 189 ponies and 574 horses narrowed down the association to one A/G SNP at an enhancer region upstream of the TBX3 (ECA8:20,644,555, p = 2.34e-39). Luciferase assays confirmed the single-nucleotide G mutation upregulating TBX3 expression, and enhancer-knockout mice exhibited shorter limbs than wild-type littermates (p < 0.01). Re-analysis of ancient DNA data showed that the G allele, which is most frequent in modern horses, first occurred some ∼2,300 years ago and rose in frequency since. This supports selection for larger size in Asia from approximately the beginning of the Chinese Empire. Overall, this study characterized the causal regulatory mutation underlying small body size in Chinese ponies and revealed size as one of the main selection targets of past Chinese breeders. 2022-01 2021-12-17T12:02:39Z 2021-12-17T12:02:39Z Journal Article https://hdl.handle.net/10568/116828 en Open Access Elsevier Xuexue Liu, Yanli Zhang, Wujun Liu, Yefang Li, Jianfei Pan, Yabin Pu, Jianlin Han, Orlando, L., Yuehui Ma and Lin Jiang. 2022. A single-nucleotide mutation within the TBX3 enhancer increased body size in Chinese horses. Current Biology 32:1–8. |
| spellingShingle | animal breeding breeds horses nucleotide sequence mutation Xuexue Liu Yanli Zhang Wujun Liu Yefang Li Jianfei Pan Yabin Pu Han Jianlin Orlando, L. Yuehui Ma Lin Jiang A single-nucleotide mutation within the TBX3 enhancer increased body size in Chinese horses |
| title | A single-nucleotide mutation within the TBX3 enhancer increased body size in Chinese horses |
| title_full | A single-nucleotide mutation within the TBX3 enhancer increased body size in Chinese horses |
| title_fullStr | A single-nucleotide mutation within the TBX3 enhancer increased body size in Chinese horses |
| title_full_unstemmed | A single-nucleotide mutation within the TBX3 enhancer increased body size in Chinese horses |
| title_short | A single-nucleotide mutation within the TBX3 enhancer increased body size in Chinese horses |
| title_sort | single nucleotide mutation within the tbx3 enhancer increased body size in chinese horses |
| topic | animal breeding breeds horses nucleotide sequence mutation |
| url | https://hdl.handle.net/10568/116828 |
| work_keys_str_mv | AT xuexueliu asinglenucleotidemutationwithinthetbx3enhancerincreasedbodysizeinchinesehorses AT yanlizhang asinglenucleotidemutationwithinthetbx3enhancerincreasedbodysizeinchinesehorses AT wujunliu asinglenucleotidemutationwithinthetbx3enhancerincreasedbodysizeinchinesehorses AT yefangli asinglenucleotidemutationwithinthetbx3enhancerincreasedbodysizeinchinesehorses AT jianfeipan asinglenucleotidemutationwithinthetbx3enhancerincreasedbodysizeinchinesehorses AT yabinpu asinglenucleotidemutationwithinthetbx3enhancerincreasedbodysizeinchinesehorses AT hanjianlin asinglenucleotidemutationwithinthetbx3enhancerincreasedbodysizeinchinesehorses AT orlandol asinglenucleotidemutationwithinthetbx3enhancerincreasedbodysizeinchinesehorses AT yuehuima asinglenucleotidemutationwithinthetbx3enhancerincreasedbodysizeinchinesehorses AT linjiang asinglenucleotidemutationwithinthetbx3enhancerincreasedbodysizeinchinesehorses AT xuexueliu singlenucleotidemutationwithinthetbx3enhancerincreasedbodysizeinchinesehorses AT yanlizhang singlenucleotidemutationwithinthetbx3enhancerincreasedbodysizeinchinesehorses AT wujunliu singlenucleotidemutationwithinthetbx3enhancerincreasedbodysizeinchinesehorses AT yefangli singlenucleotidemutationwithinthetbx3enhancerincreasedbodysizeinchinesehorses AT jianfeipan singlenucleotidemutationwithinthetbx3enhancerincreasedbodysizeinchinesehorses AT yabinpu singlenucleotidemutationwithinthetbx3enhancerincreasedbodysizeinchinesehorses AT hanjianlin singlenucleotidemutationwithinthetbx3enhancerincreasedbodysizeinchinesehorses AT orlandol singlenucleotidemutationwithinthetbx3enhancerincreasedbodysizeinchinesehorses AT yuehuima singlenucleotidemutationwithinthetbx3enhancerincreasedbodysizeinchinesehorses AT linjiang singlenucleotidemutationwithinthetbx3enhancerincreasedbodysizeinchinesehorses |