Methods for detecting a cyclophilin B SNP associated with HERDA

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

Reexamination Certificate

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C435S091100, C435S091200

Reexamination Certificate

active

07608400

ABSTRACT:
This invention provides compositions and methods for identification of carriers of Hereditary Equine Regional Dermal Asthenia (HERDA) in equine species. In particular, this invention identifies a single nucleotide polymorphorism (SNP) in cyclophlin B that can be used to identify carriers of HERDA and individuals affected by HERDA.

REFERENCES:
patent: 2007/0105234 (2007-05-01), Swiderski et al.
patent: WO 2008/121727 (2008-10-01), None
Borges et al., “Hereditary Equine Regional Dermal Asthena in Three Related Quarter Horse in Brazil,” Veterinary Dermatology, 2005, 16, 125-130.
Davis et al., “Thermal Stability and Folding of Type IV Procollagen and Effect of peptidyl-Protylcis-trans-lsomerase on Folding of the Triple Helix,”The Journal of Biological Chemistry, vol. 264, No. 15, May 25, 2989, 8956-8962.
Hardy et al., “An Inherited Connective Tissue Disease in the Horse,” Laboratory Investigation, vol. 59, No. 2, 1988, 253-262.
Tryon et al., “Inheritance of Hereditary Equine Regional Dermal Asthenia in Quarter Horses,” AJVR, vol. 66, No. 3, Mar. 2005, 437-442.
White et al., “Hereditary Equine Regional Dermal Asthenia (‘hyperelastosis cutis’) in 50 Horses: Clinical, Histological, Immunohistological and Ultrastructural Findings,” Veterinary Dermatology, 2004, 15, 207-217.
White et al., “Clinical and Pathological Findings in HERDA-affected Foal for 1.5 years of Life,” ESVD and ACVD 18, 2007, 36-40.
White et al., “Hsp47 and Cyclophilin B traverse the Endoplasmic Reticulum with Procollagen and Pre-Golgi Intermediate Vesicles,” The Journal of Biological Chemistry, vol. 270, No. 31, Aug. 4, 1995, 18323-18328.
Steinmann, et al., “Cyclosporin A Slows Collagen Triple-Helix Formation in Vivo: Indirect Evidence for a Physiologic Role of Peptidy-Prolylcis-trans-lsomerase,” The Journal of Biological Chemistry, vol. 266, No. 2, Jan. 15, 1991, 1299-1303.

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