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TBX5 identified as a candidate gene responsible for osteochondrosis in pigs


This is a report of a genome-wide association study performed in Large White pigs to investigate the genetic basis of osteochondrosis (OC), an inherited joint disorder that affects pigs, dogs and horses and is important in farming welfare, as well as in human children and adolescents.

The Porcine 60 k SNPChip was used to search for potential candidate genes that showed an association with OC lesions. Nineteen single nucleotide polymorphisms (SNPs) on six different chromosomes (3, 5, 8, 10, 14, 18) were highlighted. The authors homed in on these regions and found the most significant SNPs to be within a region that codes for TBX3, T-box transcription factor 3, TBX5, T-box transcription factor 5 and ZSCAN21 (function unknown).

Confirmation that TBX5 could indeed be responsible for OC came from real-time PCR experiments that showed larger amounts of TBX5 transcript present in cartilage from affected individuals compared to controls.

Editor’s comment: Further work is required to find out the precise role of TBX5 in OC, particularly how it acts synergistically with GJA5 (gap junction protein alpha 5) and MEF2C (myocyte enhancer factor 2 C) to support the vascularization necessary for normal cartilage growth.

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