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Table 1 Comparative human and swine map for the location of kyphosis positional candidate genes and their associated human skeletal disorders

From: Genomic regions associated with kyphosis in swine

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. 1 Position based on the USMARC linkage map and the RH Map [42]. SSC is the porcine chromosome.
  2. 2 Position based on Feb. 2009 GRCh37/hg19 human genome sequence.