Biol Reprod Keystone Symposia Conference on Frontiers in Reproductive Biology & Regulation of Fertility.
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BOR - Papers in Press, published online ahead of print September 22, 2004.
Biol Reprod 2004, 10.1095/biolreprod.104.031922
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Gary A. Rohrer
Tommy H. Wise
Donald D. Lunstra
J. Joe Ford
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Submitted May 13, 2004
Returned for revision June 8, 2004
Accepted September 10, 2004

Testis


A Variant of Porcine Thyroxine-Binding Globulin Has Reduced Affinity for Thyroxine and Is Associated with Testis Size

Dan Nonneman *, Gary A. Rohrer , Tommy H. Wise , Donald D. Lunstra , and J. Joe Ford

* To whom correspondence should be addressed. E-mail: nonneman{at}email.marc.usda.gov.

Abstract
The field of genomics applies the dissection of genetic differences towards an understanding of the biology of complex traits. Quantitative trait loci (QTL) for testis size, plasma FSH in boars, and body composition (backfat) have been identified near the centromere on the X chromosome in a Meishan-White Composite resource population. Since thyroid function affects Sertoli cell development and adult testis size in rodents, and thyroxine-binding globulin (TBG) maps to this region on the porcine X chromosome, TBG was a positional candidate gene for testis size. We discovered a polymorphism in exon 2 of the porcine TBG gene that results in an amino acid change of the consensus histidine to an asparagine. This single nucleotide polymorphism (SNP) resides in the ligand-binding domain of the mature polypeptide and the Meishan allele is the conserved allele found in human, bovine, sheep and rodent TBG. Binding studies indicate altered binding characteristics of the allelic variants of TBG with the asparagine (White Composite) isoform having significantly greater affinity for thyroxine than the histidine (Meishan) isoform. Alternate alleles in boars from the resource population are also significantly associated with testis weight. Therefore, this polymorphism in TBG is a candidate for the causative variation affecting testis size in boars.

Key words: Mechanisms of Hormone Action • Testis • Developmental biology • Follicle-stimulating hormone • Sertoli cells


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