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Gianina Ravenscroft, Flora Nolent, Sulekha Rajagopalan, Ana M

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1 Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita 
Gianina Ravenscroft, Flora Nolent, Sulekha Rajagopalan, Ana M. Meireles, Kevin J. Paavola, Dominique Gaillard, Elisabeth Alanio, Michael Buckland, Susan Arbuckle, Michael Krivanek, Jérome Maluenda, Stephen Pannell, Rebecca Gooding, Royston W. Ong, Richard J. Allcock, Ellaine D.F. Carvalho, Maria D.F. Carvalho, Fernando Kok, William S. Talbot, Judith Melki, Nigel G. Laing  The American Journal of Human Genetics  Volume 96, Issue 6, Pages (June 2015) DOI: /j.ajhg Copyright © 2015 The American Society of Human Genetics Terms and Conditions

2 Figure 1 GPR126 Missense Mutation Identified in Family 3 and Phenotypic Analysis (A) Schematic representation of the human GPR126 (Ensembl: ENST ) shows conserved domains and the p.Val741Glu substitution. (B) Sequence alignment of GPR126 from different vertebrates and of latrophilin from mammals and insects shows that the substituted valine (red) is highly conserved. Sequence alignments include those of H. sapiens GPR126 (Ensembl: ENST ), M. musculus Gpr126 (Ensembl: ENSMUST ), G. gallus GPR126 (Ensembl: ENSGALT ), D. rerio Gpr126 (GenBank: NP_ ), R. norvegicus latrophilin (Ensembl: ENSRNOT ), and D. melanogaster latrophilin (Ensembl: FBtr ). (C) Immunohistochemistry of MBP in the psoas intramuscular nerve in II:1 (family 3) and three age-matched control psoas muscles (C1–C3). Scale bars represent 100 μm. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2015 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Functional Characterization of the p.Val741Glu Substitution in GPR126 (A) Graphical representation of FLAG-tagged human GPR126 constructs corresponding to the wild-type (WT) protein, the p.Val741Glu substitution, a variant with disruption in the catalytic triad (p.His811Ala) that mediates autoproteolysis, and a deletion construct lacking the N-terminal fragment (ΔNT). (B) Immunoblots of samples from transfected HEK293 cells show total cell lysate (left) or surface-labeled proteins (right). The control cells were transfected with the empty expression vector. The cleaved (filled arrowhead) and uncleaved full-length (open arrowhead) proteins are noted. The autoproteolytic activity of the p.Val741Glu construct was consistently reduced, but some cleaved product was evident on long exposures. The blot shown is representative of three independent experiments. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2015 The American Society of Human Genetics Terms and Conditions

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