Monthly Archives: January 2015

Type XXVII collagen – human genetics finally meets mouse genetics

COL27A1

In 2011 Ray Boot-Handford and colleagues published a study looking at the role of type XXVII collagen in the growth plate. The full text of the manuscript is here.

At the time there were no known COL27A1 mutations that caused human disease; however, last month Jacqueline Hecht and her group from Houston published the first human COL27A1 mutation in Steel syndrome in the Puerto Rican population.steel

Whole-exome sequencing identified a homozygous missense variant p.(Gly697Arg) in COL27A1, in a family with Steel syndrome and no consanguinity. The identified variant appears to have arisen as a founder mutation in the Puerto Rican population.

 

Hot off the press

hot pressCartilage-Specific Ablation of XBP1 Signaling in Mouse Results in a Chondrodysplasia Characterised by Reduced Chondrocyte Proliferation and Delayed Cartilage Maturation and Mineralization

T.L. Cameron, I.L. Gresshoff, K.M. Bella, K.A. Piróg, L. Sampurno, C.L. Hartley, E.M. Sanford, R. Wilson, J. Ermann, R.P. Boot-Handford, L.H. Glimcher, M.D. Briggs, J.F. Bateman

Osteoarthritis Cartilage. 2015 Jan 16th

Our first paper of 2015

New Year 2015

We are co-authors on a paper recently accepted for publication:-

Louise Kung from Ray Boot-Handfords lab in Manchester has had her paper accepted in PLOS One.

Increased Classical Endoplasmic Reticulum Stress is Sufficient to Reduce Chondrocyte Proliferation Rate in the Growth Plate and Decrease Bone Growth.