Figure 2.

Variants identified and their consequences on UBR7 RNA and protein

(A) Schematic representation UBR7 showing the variants identified.

(B) Alignment for residue 305, which is highly conserved among vertebrates.

(C) Fibroblasts from individual 3 (compound heterozygous for a splice variant and a deletion of exons) were cultured, and mRNA was extracted and used to generate complementary DNA. When the cDNA was amplified with primers in exons 4 and 7, exon 6 was shown to be skipped in individual 3’s fibroblasts.

(D) Immunoblotting showed an absence of proteins detected at 55 kDa for individuals 3 and 5 (fibroblasts) and 1 (lymphoblastoid cell line).