A frameshift mutation in human MC4R is associated with a dominant form of obesity
Fig. 1 Mutation in MCR4 in patient Dz. a, PCR-SSCP analysis of bases 594–846 of MCR4 in
14 patients indicates the presence of a variant in patient Dz. b, Sequence analysis of two
representative plasmids (Dz10 and Dz11), containing the entire MC4R coding region
amplified from patient Dz, indicates the presence of a heterozygous 4-bp insertion. c, This
insertion would result in the expression of a truncated protein lacking the sixth and seventh
transmembrane domains (TM, transmembrane domain; EL, extra-cellular loop; Cter, C …
14 patients indicates the presence of a variant in patient Dz. b, Sequence analysis of two
representative plasmids (Dz10 and Dz11), containing the entire MC4R coding region
amplified from patient Dz, indicates the presence of a heterozygous 4-bp insertion. c, This
insertion would result in the expression of a truncated protein lacking the sixth and seventh
transmembrane domains (TM, transmembrane domain; EL, extra-cellular loop; Cter, C …
Fig. 1 Mutation in MCR4 in patient Dz. a, PCR-SSCP analysis of bases 594–846 of MCR4 in 14 patients indicates the presence of a variant in patient Dz. b, Sequence analysis of two representative plasmids (Dz10 and Dz11), containing the entire MC4R coding region amplified from patient Dz, indicates the presence of a heterozygous 4-bp insertion. c, This insertion would result in the expression of a truncated protein lacking the sixth and seventh transmembrane domains (TM, transmembrane domain; EL, extra-cellular loop; Cter, C-terminal domain).
nature.com