High impact information on C4BPB

• Finally, linkage analysis with 4 microsatellite markers linked to the C4BPB and C4BPA loci also excluded these two genes [1].
• We have characterized binding sites for these transcription factors and determined their relative contribution to the activity of the C4BPB promoter [2].
• Promoter region of the human gene coding for beta-chain of C4b binding protein. Hepatocyte nuclear factor-3 and nuclear factor-I/CTF transcription factors are required for efficient expression of C4BPB in HepG2 cells [2].
• Thus, the characterization of the murine C4BPB gene documents the peculiar situation of a single-copy gene that is functional in humans but has become a pseudogene in the mouse.(ABSTRACT TRUNCATED AT 250 WORDS)[3]
• Sequence analysis of the C4BPB exons in the Mus musculus inbred strains CBA, Balb/c, and C57BL/6, in pen-bred Swiss mice, and in Mus spretus demonstrated the presence of two in-phase stop codons that are incompatible with the expression of a functional C4BP beta polypeptide [3].

Biological context of C4BPB

• Murine C4BPB is a single-copy gene that maps close to the C4BPA gene in chromosome 1 [3].
• Dinucleotide repeat polymorphism between the human C4BPA and C4BPB gene loci (1q32) [4].
• Finally, increased C4b-BP beta-chain levels were not responsible for the phenotype of type III PS deficiency as the C4BPB haplotype did not correlate with C4b-BP beta-chain levels [5].
• We used these two polymorphisms to establish C4BPB gene haplotype in five informative type III PS-deficient families and exclude a role of the C4BPB gene in this phenotype of three of them [5].

References