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Maralynn

HSF4 gene mutation in Border Collies

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Does anyone have information about the HSF4 gene in Border Collies? I know that it is thought to affect Aussies and cause hereditary cataracts (sometimes juvenile) 

 

But I’m reading conflicting reports about it in a couple other breeds. So I’m wondering if anyone knows of any breed specific info relating to Border Collies?

 

 

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Go read the original research not opinions posted in forums or companies offering genetic tests.  I searched for +hsf4 +”border collie” on google and found nothing.

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I'm seeing original research on the gene mutation for a few breeds (looking through PubMed). 

 

But I also know of a purebred Border Collie who recently identified as a carrier (through an Embark test I believe). I had never heard of it before in the breed (or of hereditary cataracts being an issue) so I was curious if there was any information out there that I was missing/couldn't find. Or it's possibly a false positive or a benign non issue that's just being brought up because it can be...  

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Using the following search string I used google scholar to locate any publications on Border Collies and the mutation HSF4:

+HSF4 +Mutation +"Border Collie"

This string requires all three terms (HSF mutation "border Collie") be present in the text.  The search returned 16 hits.  These hits were for articles that discussed genetic mutations in various breeds where HSF4 was discussed as being present in other breeds and Border Collie had different mutations discussed.  I did not find any published articles where Border Collies were identified as having HSF4.  One article did summarize the findings of several studies on HSF4 in various breeds; the summary included a list of breeds that were tested and found to not have HSF4.  Border Collie was not among the breeds listed as having been tested.

https://cgejournal.biomedcentral.com/articles/10.1186/2052-6687-1-3

In the article above (The Genetics of Eye Disorders in the Dog), Border Collies are only discussed as having Primary lens luxation and Late-onset forms of PRA.

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