[HTML][HTML] Sc65-Null Mice Provide Evidence for a Novel Endoplasmic Reticulum Complex Regulating Collagen Lysyl Hydroxylation

ME Heard, R Besio, MA Weis, J Rai, DM Hudson… - PLoS …, 2016 - journals.plos.org
ME Heard, R Besio, MA Weis, J Rai, DM Hudson, M Dimori, SM Zimmerman…
PLoS genetics, 2016journals.plos.org
Collagen is a major component of the extracellular matrix and its integrity is essential for
connective tissue and organ function. The importance of proteins involved in intracellular
collagen post-translational modification, folding and transport was recently highlighted from
studies on recessive forms of osteogenesis imperfecta (OI). Here we describe the critical role
of SC65 (Synaptonemal Complex 65, P3H4), a leprecan-family member, as part of an
endoplasmic reticulum (ER) complex with prolyl 3-hydroxylase 3. This complex affects the …
Collagen is a major component of the extracellular matrix and its integrity is essential for connective tissue and organ function. The importance of proteins involved in intracellular collagen post-translational modification, folding and transport was recently highlighted from studies on recessive forms of osteogenesis imperfecta (OI). Here we describe the critical role of SC65 (Synaptonemal Complex 65, P3H4), a leprecan-family member, as part of an endoplasmic reticulum (ER) complex with prolyl 3-hydroxylase 3. This complex affects the activity of lysyl-hydroxylase 1 potentially through interactions with the enzyme and/or cyclophilin B. Loss of Sc65 in the mouse results in instability of this complex, altered collagen lysine hydroxylation and cross-linking leading to connective tissue defects that include low bone mass and skin fragility. This is the first indication of a prolyl-hydroxylase complex in the ER controlling lysyl-hydroxylase activity during collagen synthesis.
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