Table 1.
Comparative human and swine map for the location of kyphosis positional candidate genes and their associated human skeletal disorders
| Gene | SSC position (cM)1 | Human position (bp)2 | Human disorder |
|---|---|---|---|
| CDH7 | 1:74 | 18:63,418,157 | |
| CER1 | 1:81 | 9:14,719,734 | Bone mass density and fracture in Southern Chinese women [39] |
| COMP | 2:63 | 19:18,893,584 | Pseudoachondroplasia with vertebral anomalies and osteoarthritis [8] |
| PMSA5 | 4:115 | 1:109,944,478 | |
| KCNN2 | 2:88 | 5:113,769,227 | |
| SLC26A2 | 2:131 | 5:149,340,300 | Diastrophic dysplasia with scoliosis [7] |
| SOS1 | 3:82 | 2:39,208,692 | Noonan Syndrome [40,41] |
| LIX1L | 4:82 | 1:145,477,085 | |
| HOXC8 | 5:72 | 12:54,402,890 | Cartilage defects [9] |
| ADAMTS18 | 6:8 | 16:77,316,026 | Bone mass candidate gene [13] |
| RYR1 | 6:77 | 19:38,924,340 | Spondylocostal dysostosis and minicore myopathy with ophthalmoplegia [10,11] |
| PLOD1 | 6:83 | 1:11,994,746 | Kyphoscoliotic subtype of Ehlers-Danlos syndrome VIA [12] |
| CUL7 | 7:70 | 6:43,005,356 | 3 M Syndrome [14] |
| RUNX2 | 7:74 | 6:45,296,054 | Cleidocranial Dysplasia [15] |
| SOX9 | 12:25 | 17:70,117,161 | Campomelic dysplasia with skeletal anomalies [16] |
| MYST4 | 14:81 | 10:76,586,379 |
1 Position based on the USMARC linkage map and the RH Map [42]. SSC is the porcine chromosome.
2 Position based on Feb. 2009 GRCh37/hg19 human genome sequence.