PRB2/1 fusion gene: a product of unequal and homologous crossing-over between proline-rich protein (PRP) genes PRB1 and PRB2

• Published in: American journal of human genetics Vol. 50; no. 4; pp. 842 - 851
• Main Authors: Azen, E A, O'Connell, P, Kim, H S
• Format: Journal Article
• Language: English
• Published: United States 01-04-1992
• Subjects: Base Sequence; Blotting, Southern; Chromosome Deletion; Crossing Over, Genetic - genetics; gene fusion; genes; Genetic Carrier Screening; Homozygote; Humans; Molecular Sequence Data; Peptides - genetics; Proline-Rich Protein Domains; Restriction Mapping; saliva; Salivary Proteins and Peptides - genetics
• ISSN: 0002-9297; 1537-6605

The PRB2/1 fusion gene is produced by homologous and unequal crossing-over between PRB1 and PRB2 genes that code for basic salivary proline-rich proteins (PRPs). To determine the molecular basis for the PRB2/1 fusion gene, the DNA sequence was determined for the PRB2/1 gene and was compared with those of the PRB1 and PRB2 genes. From these comparisons, the crossing-over is postulated to occur in a 743-bp region of identity, with only 1-bp mismatch between the PRB1 and PRB2 genes, in the third intron outside the coding region of the two genes. This region of virtual complete identity is the largest found between any of the six closely linked PRB genes and may facilitate recombination. Since the coding region of PRB1 is completely absent from the PRB2/1 gene, salivas from two white PRB2/1 homozygotes were studied to determine which polymorphic PRPs were missing from the salivas. Polymorphic PRPs Pe, PmF, PmS, and Ps were found to be missing from the salivas. However, a white individual lacking the same salivary PRPs is a PRB2/1 heterozygote with one PRB1 allele. The explanation for the missing salivary proteins in this individual is unknown. The PRB2/1 gene is relatively frequent in several populations of unrelated individuals, including American blacks (n = 41), American Utah whites (n = 76), and mainland Chinese (n = 131), with gene frequencies of .22, .06, and .09, respectively. Evidence for the occurrence of PRB1/2 heterozygotes is also presented.