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Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Abstract：

:Leber congenital amaurosis (LCA) is a neurodegenerative disease of photoreceptor cells that causes blindness within the first year of life. It occasionally occurs in syndromic metabolic diseases and plurisystemic ciliopathies. Using exome sequencing in a multiplex family and three simplex case subjects with an atypical association of LCA with early-onset hearing loss, we identified two heterozygous mutations affecting Arg391 in β-tubulin 4B isotype-encoding (TUBB4B). Inspection of the atomic structure of the microtubule (MT) protofilament reveals that the β-tubulin Arg391 residue contributes to a binding pocket that interacts with α-tubulin contained in the longitudinally adjacent αβ-heterodimer, consistent with a role in maintaining MT stability. Functional analysis in cultured cells overexpressing FLAG-tagged wild-type or mutant TUBB4B as well as in primary skin-derived fibroblasts showed that the mutant TUBB4B is able to fold, form αβ-heterodimers, and co-assemble into the endogenous MT lattice. However, the dynamics of growing MTs were consistently altered, showing that the mutations have a significant dampening impact on normal MT growth. Our findings provide a link between sensorineural disease and anomalies in MT behavior and describe a syndromic LCA unrelated to ciliary dysfunction.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Luscan R,Mechaussier S,Paul A,Tian G,Gérard X,Defoort-Dellhemmes S,Loundon N,Audo I,Bonnin S,LeGargasson JF,Dumont J,Goudin N,Garfa-Traoré M,Bras M,Pouliet A,Bessières B,Boddaert N,Sahel JA,Lyonnet S,Kaplan J,Cowa

doi

10.1016/j.ajhg.2017.10.010

subject

Has Abstract

pub_date

2017-12-07 00:00:00

pages

1006-1012

issue

6

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(17)30452-4

journal_volume

101

pub_type

杂志文章

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