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Comment
. 2020 Jul;69(7):1359-1361.
doi: 10.1136/gutjnl-2019-319015. Epub 2019 Jun 14.

β6 integrinosis: a new lethal autosomal recessive ITGB6 disorder leading to impaired conformational transitions of the αVβ6 integrin receptor

Patrick Weil  1 , Rhea van den Bruck  2 , Thomas Ziegenhals  3 , Stefan Juranek  3 , Daniel Goedde  4 , Valerie Orth  5 , Stefan Wirth  2 , Andreas C Jenke #  1   6 , Jan Postberg #  1
Affiliations
Comment

β6 integrinosis: a new lethal autosomal recessive ITGB6 disorder leading to impaired conformational transitions of the αVβ6 integrin receptor

Patrick Weil et al. Gut. 2020 Jul.
No abstract available

Keywords: infant gut; integrins; intestinal malabsorption.

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Conflict of interest statement

Competing interests: None declared.

Figures

Figure 1
Figure 1
(A) Pedigree tree: patient (arrow) and known relatives. Red: verified ITGB6G1312A|rs61737764. (B) Immunohistochemistry/H&E stain on parallel target/control tissue sections using anti-human αVβ6 (6.2A1) or anti-human LTBP1 (Antibodies Online/ABIN1807165).
Figure 2
Figure 2
(A) Alignment: vertebrate β6 integrins and eight human β integrins. (B1) αVβ6 headpiece subdomains participate in dimerisation. (B2) Magnified view demonstrating exposed V438 localisation at the β6 hybrid domain surface. (B3) Simulation of V438M substitution caused additional H bonds (green lines) bridging the hybrid domain and the N-terminal β6 domain. (C) F2H assay results. Top quartet: ITGB6(wt)-GFP (bait/green) enrichment at nuclear GFP-binding matrix. Colocalisation of ITGAV-RFP (prey/red) indicated αV/β6 interaction. Bottom quartet: Using ITGB6V438M-GFP no ITGAV-RFP colocalisation was observed, suggesting impaired interaction. (D) Zebrafish tailfin wound healing after ITGB6 knockdown. (D1–3) Standardised injuries principle. (D4) Mortality after morpholino application. (D5) Delayed wound area recovery within 24 hours suggests impaired wound healing on ITGB6 knockdown.
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