Byers, Peter H.

Faculty Profile

First Name: 
Peter H.
Last Name: 
[field_fname-formatted] [field_lname-formatted]
Primary Institution: 
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Office Location: 

D518, HSB

Office Phone: 
(206) 543-4206

Research Summary: 

We study the molecular basis of human genetic disorders and genotype/phenotype pathways. Our principle models are mutations in human collagen genes and genes that encode the protein chaperones and other modifying proteins. Although most mutations in the collagen genes produce phenotypes when one allele is altered (dominant inheritance) we have identified mutations in five additional genes that act in the post-translational modification pathway, chain assembly, and regulate the transition from the ER to Golgi and then further along the pathway. These genes (PPIB, CRTAP, LEPRE1, SERPINH1, , SERPINF1, FKBP10, PLOD2, BMP1, SP7, TMEM38B, and WNT1), which encode prolyl cis-trans isomerases, hydroxylases, chaperones, and regulatory genes affect the synthesis of the chains of type I collagen, assembly of chains, the folding of the triple helix of collagens, and influence secretion. We are examining the precise mechanisms by which mutations induce the phenotypes and are determining the details of protein modification, assembly and interactions. These genes do not complete the list of genes that give rise to phenotypes we study so we are looking by linkage and, shortly, full exome sequencing. To understand details of molecular pathogenesis, we are examining the pathways altered by these mutations. Finally, we are studying parental mosaicism for dominant disorders, and how the order of mRNA splicing influences the outcome of splice site mutations.  We have an additional interest in genes that regulated arterial integrity in which mutations give rise to aneurysms.  With both the brittle bone families and those with arterial defects we use exome sequence analysis to try to identify new

Short Research Description: 
Molecular mechanisms of human genetic disorders
Areas of Interest: 
Genetics, Genomics & Evolution
<p> mRNA splicing, quality control of protein production, quality control of mRNA production, mosaicism and disease mechanisms, human genetics, genetic bone diseases, collagen, inherited connective tissue disorders, cardiovascular biology, extracellular matrix, genetic diseases, intracellular protein degradation,</p>

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