Structural determinants of adhesion by Protocadherin-19 and implications for its role in epilepsy

Cooper, Sharon R.; Jontes, James D.; Sotomayor, Marcos

doi:10.7554/eLife.18529

Title: Structural determinants of adhesion by Protocadherin-19 and implications for its role in epilepsy

Journal Article · Wed Oct 26 00:00:00 EDT 2016 · eLife

DOI:https://doi.org/10.7554/eLife.18529· OSTI ID:1334804

Cooper, Sharon R.;

;

Non-clustered δ-protocadherins are homophilic cell adhesion molecules essential for the development of the vertebrate nervous system, as several are closely linked to neurodevelopmental disorders. Mutations inprotocadherin-19(PCDH19) result in a female-limited, infant-onset form of epilepsy (PCDH19-FE). Over 100 mutations inPCDH19have been identified in patients with PCDH19-FE, about half of which are missense mutations in the adhesive extracellular domain. Neither the mechanism of homophilic adhesion by PCDH19, nor the biochemical effects of missense mutations are understood. Here we present a crystallographic structure of the minimal adhesive fragment of the zebrafish Pcdh19 extracellular domain. This structure reveals the adhesive interface for Pcdh19, which is broadly relevant to both non-clustered δ and clustered protocadherin subfamilies. In addition, we show that several PCDH19-FE missense mutations localize to the adhesive interface and abolish Pcdh19 adhesion inin vitroassays, thus revealing the biochemical basis of their pathogenic effects during brain development.

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Research Organization:: Argonne National Laboratory (ANL), Argonne, IL (United States). Advanced Photon Source (APS)

Sponsoring Organization:: DOE - BASIC ENERGY SCIENCESUNIVERSITYNIHOTHER

OSTI ID:: 1334804

Journal Information:: eLife, Vol. 5, Issue 2016; ISSN 2050-084X

Publisher:: eLife Sciences Publications, Ltd.

Country of Publication:: United States

Language:: ENGLISH

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Modak, Debadrita; Sotomayor, Marcos

Title: Structural determinants of adhesion by Protocadherin-19 and implications for its role in epilepsy

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