Results: 2

1.
Fig. 1.

Fig. 1. From: Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome.

(A) The pedigree of family 1. WT DNA sequence (B) and sequence (cloned PCR product) (C) from an affected individual from family 1. The nucleotide sequence is shown above and the corresponding amino acids below the sequence. There is a 6-bp deletion in the affected individual (GACAGT) resulting in deletion of an aspartic acid and serine (ΔD237/S238), denoted by the bar under B.(D) Shown are the pedigrees of families 2 and 3 (filled areas indicate an affected individual, • within □ or ○ indicates an unaffected heterozygote, and the double connecting line indicates consanguinity). (E) WT sequence. (F) A heterozygote T822C. (G) Homozygous T822C. This transition leads to an amino acid change, S206P. PCR products were directly sequenced.

Anna Richards, et al. Proc Natl Acad Sci U S A. 2003 October 28;100(22):12966-12971.
2.
Fig. 2.

Fig. 2. From: Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome.

(A) Western blot of CHO cell lysates probed with a rabbit polyclonal Ab to MCP. Lane 1 contains the size markers. Lane 2 is a CHO cell not expressing MCP. Lane 3 shows the phenotype of WT MCP as expressed by transfected CHO cells. Lanes 4 and 5 are the mutations in WT MCP identified in the HUS families. Lane 4 represents the cell line expressing the mutant observed in family 1. Its lower migration pattern is similar to a precursor form of MCP (see below). S206P is the single proline substitution for the native serine identified in families 2 and 3 (lane 5) that migrates similarly to WT. (B) Fluorescence-activated cell sorting analysis of expression of the MCP mutants ΔD237/S238 versus S206P shows low expression levels of the deletion mutant. (C) Biotinylation of cell surface proteins followed by immunoprecipitation with a mAb to MCP shows only a trace of deleted protein expressed on the cell surface. (D) Pulse–chase analysis of the deletion mutant (ΔD237/S238) versus WT MCP. The precursor of the deletion mutant does not chase into the mature protein. (E) Glycosidase digestion of deletion mutant (ΔD237/S238) versus WT MCP (see text for explanations).

Anna Richards, et al. Proc Natl Acad Sci U S A. 2003 October 28;100(22):12966-12971.

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