The key to evolution of birth disorders

Research by Dr. Peter Jezewski, Forsyth's scientist, revealed that doubling and diversifying some protein regions in control genes is the key to understanding some of the fertility disorders. . Tracking the historical process of these changes in the weight of the protein coded by the Msx family in the past 600 million years also provides further evidence of the ancient origin of the human mouth.

Dr. Jezewski published an important study of the Msx gene family that has an ancient origin as a key control gene for embryonic development.Previous research by Dr. Jezewski and others found mutations in the MSX1 gene in two different birth disorders: lip and palate deformities or skin disorders including tooth and nail defects . Mutations associated with more severe deformations are found in segments of the MSX protein, thus providing the first molecular explanation of the disease. This study could allow genetically-affected families to be susceptible to environmental risk factors that prevent birth disorders.

Deforming lips and palate. (Photo: mdconsult.com)

Lip and palate deformities are one of the most common birth defects. Both genes and environment contribute to this situation. Dr Jezewski said: 'If we can learn about the genetic susceptibility of these families, we can begin to study how environmental factors, such as mothers who smoke , participate in the manifestation of these disorders. This information may be the basis for appropriate behavior change guidelines in families at genetic risk '.

The study was directed by Dr. Peter Jezewski of Forsyth Academy, and conducted in collaboration with Dr. John Finnerty and Maureen Mazza of Boston University. The team performed a number of evolutionary analyzes on 46 Msx proteins from a collection of animals, from sponges to humans.This analysis identifies the human sequence patterns in Msx that may be the basis for this type of disease, and indicates why mutations in the same gene can lead to facial deformity or ectoderm type.

These medical insights were collected from studies that demonstrated that some sections of Msx protein remained the same over a very long period (> 600 million years) while the other Msx protein module was duplicated and then transmitted developed on the Msx gene was initially duplicated. This is an unrecognized field for the evolution of morphology.These observations will help develop future medical and functional research on these mutations.

Dr. Peter Alan Jezewski is a researcher at the Department of Biology at the Forsyth Institute and an adjunct professor at Harvard Medical School. Jezewski's laboratory studies the inheritance process of human mouth diseases especially complicated reproductive disorders.

The study was funded by the National Institute of Facial Dentistry.

Refer:

Domain duplication, divergence, and loss events in vertebrate Msx paralogs reveal phylogenomically-informed disease disease markers.BMC Evolutionary Biology, January 14, 2009