Exome Sequencing of a Pedigree Reveals S339L Mutation in the TLN2 Gene as a Cause of Fifth Finger Camptodactyly

Deng, Hao; Deng, Sheng; Xu, Hongbo; Deng, Hua; Chen, Yulan; Yuan, Lamei; Deng, Xiong; Yang, Shengbo; Guan, Liping; Zhang, Jianguo; Yuan, Hong; Guo, Yi

doi:10.1371/journal.pone.0155180

Cited by 10 publications

(10 citation statements)

References 27 publications

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“…The mechanisms behind isoform switching in heart remain to be elucidated, but the data clearly indicate that the two talin isoforms play distinct roles in cardiac muscle. Further evidence of the importance of talin2 in development comes from the exome sequencing-based identification of a mutation (S339L in F3) in the Tln2 gene that causes fifth finger Camptodactyly [112]. Given that tal-in2 is not an essential gene, it seems likely that whole exome sequencing will reveal further disease-associated mutations in the Tln2 gene, and these will provide further insights into its functions.…”

Section: Talin2 In Disease and Developmentmentioning

confidence: 99%

The tale of two talins – two isoforms to fine‐tune integrin signalling

Gough

Goult

2018

FEBS Letters

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Talins are cytoplasmic adapter proteins essential for integrin‐mediated cell adhesion to the extracellular matrix. Talins control the activation state of integrins, link integrins to cytoskeletal actin, recruit numerous signalling molecules that mediate integrin signalling and coordinate recruitment of microtubules to adhesion sites via interaction with KANK (kidney ankyrin repeat‐containing) proteins. Vertebrates have two talin genes, TLN1 and TLN2. Although talin1 and talin2 share 76% protein sequence identity (88% similarity), they are not functionally redundant, and the differences between the two isoforms are not fully understood. In this Review, we focus on the similarities and differences between the two talins in terms of structure, biochemistry and function, which hint at subtle differences in fine‐tuning adhesion signalling.

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Section: Talin2 In Disease and Developmentmentioning

confidence: 99%

The tale of two talins – two isoforms to fine‐tune integrin signalling

Gough

Goult

2018

FEBS Letters

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“…Another example is the ASSV (242 bp deletion) within an ADE in PcGm in TLN2 ( Figure 5A), a brain-function-related gene (Gusareva, et al 2018;Mendez-David, et al 2017). This gene was also reported as a cause of fifth finger Camptodactyly (Deng, et al 2016). Currently, the ENCODE data in NHPs are mostly from the brain, while the data from other tissues are not available.…”

Section: Discussionmentioning

confidence: 99%

Long-read assembly of the Chinese rhesus macaque genome and identification of ape-specific structural variants

Luo

Zhou

et al. 2019

Preprint

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Rhesus macaque (Macaca mulatta) is a widely-studied nonhuman primate. Here we present a high-quality de novo genome assembly of the Chinese rhesus macaque (rheMacS) using long-read sequencing and multiplatform scaffolding approaches.Compared to the current Indian rhesus macaque reference genome (rheMac8), the rheMacS genome assembly improves sequence contiguity by 75-fold, closing 21,940 of the remaining assembly gaps (60.8 Mbp). To improve gene annotation, we generated more than two million full-length transcripts from ten different tissues by long-read RNA sequencing. We sequence resolve 53,916 structural variants (96% novel) and identify 17,000 ape-specific structural variants (ASSVs) based on comparison to the long-read assembly of ape genomes. We show that many ASSVs map within ChIP-seq predicted enhancer regions where apes and macaque show diverged enhancer activity and gene expression. We further characterize a set of candidate ASSVs that may contribute to ape-or great-ape-specific phenotypic traits, including taillessness, brain volume expansion, improved manual dexterity, and large body size. This improved rheMacS genome assembly serves as an ideal reference for future biomedical and evolutionary studies.

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“…Here, we used capture agilent probes that were used in previously published studies [21,[26][27][28].…”

Section: Capture Panel Designingmentioning

confidence: 99%

Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing

Imani

Cheng

Mobasher-Jannat

et al. 2017

J Cellular Molecular Medi

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Leber congenital amaurosis (LCA) is a heterogeneous, early‐onset inherited retinal dystrophy, which is associated with severe visual impairment. We aimed to determine the disease‐causing variants in Iranian LCA and evaluate the clinical implications. Clinically, a possible LCA disease was found through diagnostic imaging, such as fundus photography, autofluorescence and optical coherence tomography. All affected patients showed typical eye symptoms associated with LCA including narrow arterioles, blindness, pigmentary changes and nystagmus. Target exome sequencing was performed to analyse the proband DNA. A homozygous novel c. 2889delT (p.P963 fs) mutation in the RPGRIP1 gene was identified, which was likely the deleterious and pathogenic mutation in the proband. Structurally, this mutation lost a retinitis pigmentosa GTPase regulator (RPGR)‐interacting domain at the C‐terminus which most likely impaired stability in the RPGRIP1 with the distribution of polarised proteins in the cilium connecting process. Sanger sequencing showed complete co‐segregation in this pedigree. This study provides compelling evidence that the c. 2889delT (p.P963 fs) mutation in the RPGRIP1 gene works as a pathogenic mutation that contributes to the progression of LCA.

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Exome Sequencing of a Pedigree Reveals S339L Mutation in the TLN2 Gene as a Cause of Fifth Finger Camptodactyly

Cited by 10 publications

References 27 publications

The tale of two talins – two isoforms to fine‐tune integrin signalling

The tale of two talins – two isoforms to fine‐tune integrin signalling

Long-read assembly of the Chinese rhesus macaque genome and identification of ape-specific structural variants

Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing

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