Genetic control of avian scleroderma

Abstract

The inheritance of avian scleroderma, a fibrotic autoimmune disease of chickens resembling human scleroderma, was investigated. Comb inflammations and lesions were used to determine the state of disease of 4-week-old chickens. All line 200 males and 60% of female line 200 chicks showed abnormalities. Crosses (F1) between line 200 and eight partially inbred lines of chickens maintained at the University of California at Davis were all normal. Backcrosses of F1 cocks to line 200 hens showed a higher incidence of scleroderma in males than in females for all lines. The incidence of affected birds varied between backcrosses from a low of 42% for backcross line 217 males derived from a New Hampshire line, to 88% for males of backcross line 213 derived from a partially inbred Leghorn line, demonstrating the presence of genes modifying the penetrance of presumed major genes causing the disease. Backcross genotypes segregating for haplotypes of the major histocompatibility complex (MHC) derived from inbred lines showed consistently lower penetrance of scleroderma than homozygotes carrying the line 200 haplotype. Thus B3Bs (lines 211 and 215), B14Bs (line 217), and B15Bs (lines 212, 213, 216, and 218) all had fewer affected individuals than BsBs homozygotes from the same families.

Endothelial cell apoptosis is a primary pathogenetic event underlying skin lesions in avian and human scleroderma.

“…The following strains of chickens were used: UCD lines 200 and 206, which spontaneously develop an inherited scleroderma-like disease (7,18), healthy UCD line 058, which have the same MHC haplotype ( B 15 ) as line 206, normal White Leghorn (NWL) chickens as healthy outbred controls, and the obese strain (OS), a chicken model of spontaneous autoimmune thyroiditis (19,20), as a control with an unrelated organ-specific autoimmune disease. NWL chickens were purchased from a local breeder (F. Moser, Polling, Austria).…”

Animal models for scleroderma: An update

“…Scleroderma-like disease in UCD 200 chickens appears to be autosomal recessive with incomplete penetrance [21]. The UCD 200/202 chicken lines demonstrate many features of human scleroderma, and have been reviewed with the tsk model [22].…”

Altered Procollagen mRNA Expression during the Progression of Avian Scleroderma

“…Animals UCD-200 and healthy white Leghorn control line UCD-058 chickens were bred and maintained in the Central Laboratory Animal Facilities of the University of Innsbruck Medical School. The natural history and genetic characteristics of these UCD lines have been described previously (8,20).…”