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Genetics, Clinical Phenotype, and Molecular Cell Biology
of Autosomal Recessive Hypercholesterolemia
by Anne K. Soutar, Rossitza P. Naoumova, and Linton M. Traub
Arterioscler Thromb Vasc Biol
Volume 23(11):1963-1970
November 1, 2003
Copyright © American Heart Association, Inc. All rights reserved.
Figure 1. Genetic variation in ARH. The ARH gene lies on chromosome 1p35-36.1 and comprises
9 exons, indicated by numbered shaded boxes on the diagram; asterisks mark the position of
the ATG (start) and TGA (stop) codons.16 The positions of known mutations are indicated below
the gene (described in detail in the Table), and known polymorphisms that change the amino
acid sequence are indicated above the diagram.
Anne K. Soutar et al. Arterioscler Thromb Vasc Biol.
2003;23:1963-1970
Copyright © American Heart Association, Inc. All rights reserved.
Figure 2. Degradation of LDL by different cell types from the same individual.
Anne K. Soutar et al. Arterioscler Thromb Vasc Biol.
2003;23:1963-1970
Copyright © American Heart Association, Inc. All rights reserved.
Figure 3. Long-term response to lipid-lowering medication in a patient with ARH (Q136X
mutation).
Anne K. Soutar et al. Arterioscler Thromb Vasc Biol.
2003;23:1963-1970
Copyright © American Heart Association, Inc. All rights reserved.
Figure 4. PTB domain containing endocytic proteins.
Anne K. Soutar et al. Arterioscler Thromb Vasc Biol.
2003;23:1963-1970
Copyright © American Heart Association, Inc. All rights reserved.
Figure 5. A cargo-sorting endocytic web.
Anne K. Soutar et al. Arterioscler Thromb Vasc Biol.
2003;23:1963-1970
Copyright © American Heart Association, Inc. All rights reserved.