Research ExplorerPublicationsHuman CLP1 Mutations Alter tRNA Biogenesis, Affecting Both P...

Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function

Standard

Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function. / Karaca, Ender; Weitzer, Stefan; Pehlivan, Davut; Shiraishi, Hiroshi; Gogakos, Tasos; Hanada, Toshikatsu; Jhangiani, Shalini N; Wiszniewski, Wojciech; Withers, Marjorie; Campbell, Ian M; Erdin, Serkan; Isikay, Sedat; Franco, Luis M; Gonzaga-Jauregui, Claudia; Gambin, Tomasz; Gelowani, Violet; Hunter, Jill V; Yesil, Gozde; Koparir, Erkan; Yilmaz, Sarenur; Brown, Miguel; Briskin, Daniel; Hafner, Markus; Morozov, Pavel; Farazi, Thalia A; Bernreuther, Christian; Glatzel, Markus; Trattnig, Siegfried; Friske, Joachim; Kronnerwetter, Claudia; Bainbridge, Matthew N; Gezdirici, Alper; Seven, Mehmet; Muzny, Donna M; Boerwinkle, Eric; Ozen, Mustafa; Clausen, Tim; Tuschl, Thomas; Yuksel, Adnan; Hess, Andreas; Gibbs, Richard A; Martinez, Javier; Penninger, Josef M; Lupski, James R; Baylor Hopkins Center for Mendelian Genomics.

In: CELL, Vol. 157, No. 3, 24.04.2014, p. 636-650.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Karaca, E, Weitzer, S, Pehlivan, D, Shiraishi, H, Gogakos, T, Hanada, T, Jhangiani, SN, Wiszniewski, W, Withers, M, Campbell, IM, Erdin, S, Isikay, S, Franco, LM, Gonzaga-Jauregui, C, Gambin, T, Gelowani, V, Hunter, JV, Yesil, G, Koparir, E, Yilmaz, S, Brown, M, Briskin, D, Hafner, M, Morozov, P, Farazi, TA, Bernreuther, C, Glatzel, M, Trattnig, S, Friske, J, Kronnerwetter, C, Bainbridge, MN, Gezdirici, A, Seven, M, Muzny, DM, Boerwinkle, E, Ozen, M, Clausen, T, Tuschl, T, Yuksel, A, Hess, A, Gibbs, RA, Martinez, J, Penninger, JM, Lupski, JR & Baylor Hopkins Center for Mendelian Genomics 2014, 'Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function', CELL, vol. 157, no. 3, pp. 636-650. https://doi.org/10.1016/j.cell.2014.02.058

APA

Karaca, E., Weitzer, S., Pehlivan, D., Shiraishi, H., Gogakos, T., Hanada, T., Jhangiani, S. N., Wiszniewski, W., Withers, M., Campbell, I. M., Erdin, S., Isikay, S., Franco, L. M., Gonzaga-Jauregui, C., Gambin, T., Gelowani, V., Hunter, J. V., Yesil, G., Koparir, E., ... Baylor Hopkins Center for Mendelian Genomics (2014). Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function. CELL, 157(3), 636-650. https://doi.org/10.1016/j.cell.2014.02.058

Vancouver

Karaca E, Weitzer S, Pehlivan D, Shiraishi H, Gogakos T, Hanada T et al. Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function. CELL. 2014 Apr 24;157(3):636-650. https://doi.org/10.1016/j.cell.2014.02.058

Bibtex

@article{5d0b1b114a114f728fd537e1e8856c94,
title = "Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function",
abstract = "CLP1 is a RNA kinase involved in tRNA splicing. Recently, CLP1 kinase-dead mice were shown to display a neuromuscular disorder with loss of motor neurons and muscle paralysis. Human genome analyses now identified a CLP1 homozygous missense mutation (p.R140H) in five unrelated families, leading to a loss of CLP1 interaction with the tRNA splicing endonuclease (TSEN) complex, largely reduced pre-tRNA cleavage activity, and accumulation of linear tRNA introns. The affected individuals develop severe motor-sensory defects, cortical dysgenesis, and microcephaly. Mice carrying kinase-dead CLP1 also displayed microcephaly and reduced cortical brain volume due to the enhanced cell death of neuronal progenitors that is associated with reduced numbers of cortical neurons. Our data elucidate a neurological syndrome defined by CLP1 mutations that impair tRNA splicing. Reduction of a founder mutation to homozygosity illustrates the importance of rare variations in disease and supports the clan genomics hypothesis.",
keywords = "Abnormalities, Multiple, Animals, Central Nervous System Diseases, Cerebrum, Child, Preschool, Endoribonucleases, Female, Fibroblasts, Humans, Infant, Male, Mice, Mice, Inbred CBA, Microcephaly, Mutation, Missense, Nuclear Proteins, Peripheral Nervous System Diseases, Phosphotransferases, RNA, Transfer, Transcription Factors",
author = "Ender Karaca and Stefan Weitzer and Davut Pehlivan and Hiroshi Shiraishi and Tasos Gogakos and Toshikatsu Hanada and Jhangiani, {Shalini N} and Wojciech Wiszniewski and Marjorie Withers and Campbell, {Ian M} and Serkan Erdin and Sedat Isikay and Franco, {Luis M} and Claudia Gonzaga-Jauregui and Tomasz Gambin and Violet Gelowani and Hunter, {Jill V} and Gozde Yesil and Erkan Koparir and Sarenur Yilmaz and Miguel Brown and Daniel Briskin and Markus Hafner and Pavel Morozov and Farazi, {Thalia A} and Christian Bernreuther and Markus Glatzel and Siegfried Trattnig and Joachim Friske and Claudia Kronnerwetter and Bainbridge, {Matthew N} and Alper Gezdirici and Mehmet Seven and Muzny, {Donna M} and Eric Boerwinkle and Mustafa Ozen and Tim Clausen and Thomas Tuschl and Adnan Yuksel and Andreas Hess and Gibbs, {Richard A} and Javier Martinez and Penninger, {Josef M} and Lupski, {James R} and {Baylor Hopkins Center for Mendelian Genomics}",
note = "Copyright {\textcopyright} 2014 Elsevier Inc. All rights reserved.",
year = "2014",
month = apr,
day = "24",
doi = "10.1016/j.cell.2014.02.058",
language = "English",
volume = "157",
pages = "636--650",
journal = "CELL",
issn = "0092-8674",
publisher = "Cell Press",
number = "3",

}

RIS

TY - JOUR

T1 - Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function

AU - Karaca, Ender

AU - Weitzer, Stefan

AU - Pehlivan, Davut

AU - Shiraishi, Hiroshi

AU - Gogakos, Tasos

AU - Hanada, Toshikatsu

AU - Jhangiani, Shalini N

AU - Wiszniewski, Wojciech

AU - Withers, Marjorie

AU - Campbell, Ian M

AU - Erdin, Serkan

AU - Isikay, Sedat

AU - Franco, Luis M

AU - Gonzaga-Jauregui, Claudia

AU - Gambin, Tomasz

AU - Gelowani, Violet

AU - Hunter, Jill V

AU - Yesil, Gozde

AU - Koparir, Erkan

AU - Yilmaz, Sarenur

AU - Brown, Miguel

AU - Briskin, Daniel

AU - Hafner, Markus

AU - Morozov, Pavel

AU - Farazi, Thalia A

AU - Bernreuther, Christian

AU - Glatzel, Markus

AU - Trattnig, Siegfried

AU - Friske, Joachim

AU - Kronnerwetter, Claudia

AU - Bainbridge, Matthew N

AU - Gezdirici, Alper

AU - Seven, Mehmet

AU - Muzny, Donna M

AU - Boerwinkle, Eric

AU - Ozen, Mustafa

AU - Clausen, Tim

AU - Tuschl, Thomas

AU - Yuksel, Adnan

AU - Hess, Andreas

AU - Gibbs, Richard A

AU - Martinez, Javier

AU - Penninger, Josef M

AU - Lupski, James R

AU - Baylor Hopkins Center for Mendelian Genomics

N1 - Copyright © 2014 Elsevier Inc. All rights reserved.

PY - 2014/4/24

Y1 - 2014/4/24

N2 - CLP1 is a RNA kinase involved in tRNA splicing. Recently, CLP1 kinase-dead mice were shown to display a neuromuscular disorder with loss of motor neurons and muscle paralysis. Human genome analyses now identified a CLP1 homozygous missense mutation (p.R140H) in five unrelated families, leading to a loss of CLP1 interaction with the tRNA splicing endonuclease (TSEN) complex, largely reduced pre-tRNA cleavage activity, and accumulation of linear tRNA introns. The affected individuals develop severe motor-sensory defects, cortical dysgenesis, and microcephaly. Mice carrying kinase-dead CLP1 also displayed microcephaly and reduced cortical brain volume due to the enhanced cell death of neuronal progenitors that is associated with reduced numbers of cortical neurons. Our data elucidate a neurological syndrome defined by CLP1 mutations that impair tRNA splicing. Reduction of a founder mutation to homozygosity illustrates the importance of rare variations in disease and supports the clan genomics hypothesis.

AB - CLP1 is a RNA kinase involved in tRNA splicing. Recently, CLP1 kinase-dead mice were shown to display a neuromuscular disorder with loss of motor neurons and muscle paralysis. Human genome analyses now identified a CLP1 homozygous missense mutation (p.R140H) in five unrelated families, leading to a loss of CLP1 interaction with the tRNA splicing endonuclease (TSEN) complex, largely reduced pre-tRNA cleavage activity, and accumulation of linear tRNA introns. The affected individuals develop severe motor-sensory defects, cortical dysgenesis, and microcephaly. Mice carrying kinase-dead CLP1 also displayed microcephaly and reduced cortical brain volume due to the enhanced cell death of neuronal progenitors that is associated with reduced numbers of cortical neurons. Our data elucidate a neurological syndrome defined by CLP1 mutations that impair tRNA splicing. Reduction of a founder mutation to homozygosity illustrates the importance of rare variations in disease and supports the clan genomics hypothesis.

KW - Abnormalities, Multiple

KW - Animals

KW - Central Nervous System Diseases

KW - Cerebrum

KW - Child, Preschool

KW - Endoribonucleases

KW - Female

KW - Fibroblasts

KW - Humans

KW - Infant

KW - Male

KW - Mice

KW - Mice, Inbred CBA

KW - Microcephaly

KW - Mutation, Missense

KW - Nuclear Proteins

KW - Peripheral Nervous System Diseases

KW - Phosphotransferases

KW - RNA, Transfer

KW - Transcription Factors

U2 - 10.1016/j.cell.2014.02.058

DO - 10.1016/j.cell.2014.02.058

M3 - SCORING: Journal article

C2 - 24766809

VL - 157

SP - 636

EP - 650

JO - CELL

JF - CELL

SN - 0092-8674

IS - 3

ER -