Montalcino, A zebrafish model for variegate porphyria.

ABSTRACT:

Objective

Inherited or acquired mutations in the heme biosynthetic pathway leads to a debilitating class of diseases collectively known as porphyrias, with symptoms that can include anemia, cutaneous photosensitivity, and neurovisceral dysfunction. In a genetic screen for hematopoietic mutants, we isolated a zebrafish mutant, montalcino (mno), which displays hypochromic anemia and porphyria. The objective of this study was to identify the defective gene and characterize the phenotype of the zebrafish mutant.

Materials and methods

Genetic linkage analysis was utilized to identify the region harboring the mno mutation. Candidate gene analysis together with reverse transcriptase polymerase chain reaction was utilized to identify the genetic mutation, which was confirmed via all

SUBMITTER: Dooley KA 

PROVIDER: S-EPMC2630115 | biostudies-literature | 2008 Sep

REPOSITORIES: biostudies-literature