Question

Considering the phenotype of HUMAN WEBBED FEET & generate THREE distinct hypotheses about what gene (or type of gene) is being affected in this patient (meaning I want three different genes). Record the gene (or type of gene) and the nature of the mutation (loss-of-function, gain-of-function, a type of regulatory mutation (be specific as to the type of regulatory mutation), etc.). Explain WHY you think mutations in these genes would lead to the defect shown. Base your answers off of data from model organisms that exhibit similar wild type phenotypes as humans.

Answer 1

Answer- three genes associated with weebed fingers and toes are as follows- LMBR1, GJA1 and GLI3 genes. These genes are associated with the normal shape and structure of various organs including limbs and fingers.

The mutation in these genes are regulatory type mutation. Some of them are nonsense mutation.

The mutation in these genes will produce defected limbs formation because the wild type genes are associated with the formation of normal limbs shape and structure. Various studies in model organisms showed that these mutation in these genes produce webbed toes and fingers.