Roger Dawkins

By Sally S. Lloyd, Edward J. Steele and Roger L. Dawkins

In this era of whole-genome, next-generation sequencing, it is important to have a clear understanding of the concept of “haplotype”. We show here that most of the important regions of the genome can be described in terms of polymorphic frozen blocks (PFB). At each PFB, there are numerous, even hundreds, of alternative ancestral haplotypes. Haplotypes, not genes, can be regarded as the principal unit of inheritance. We illustrate how sequence data can be analysed to reveal and define these ancestral haplotypes.

Part of the book: Next Generation Sequencing

By Jose L. Valenzuela, Sally S. Lloyd, Edward J. Steele, Francis L. Mastaglia and Roger L. Dawkins

There are interesting similarities and differences when comparing the histopathology of bovine marbling and human muscular dystrophy. At the simplest level, both conditions are characterized by genetically controlled and more or less inexorable replacement of muscle fibers with fat cells. At issue is whether an improved understanding of these two processes can lead to better outcomes for patients. There are many forms of dystrophy that differ in their genetics and their histopathology. There are also many forms of “marbling” ranging from the coarse to fine, epimysial, perimysial to endomysial and even to total replacement or steatosis. A detailed examination of marbling will provide a framework for further investigation of human dystrophy. Ultimately, the many genetic factors involved can be addressed through a better understanding of the metabolic pathways involved in marbling.

Part of the book: Muscular Dystrophies