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Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

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Harvard

Höben, IM, Hjeij, R, Olbrich, H, Dougherty, GW, Nöthe-Menchen, T, Aprea, I, Frank, D, Pennekamp, P, Dworniczak, B, Wallmeier, J, Raidt, J, Nielsen, KG, Philipsen, MC, Santamaria, F, Venditto, L, Amirav, I, Mussaffi, H, Prenzel, F, Wu, K, Bakey, Z, Schmidts, M, Loges, NT & Omran, H 2018, 'Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms' American Journal of Human Genetics, vol. 102, no. 5, pp. 973-984. https://doi.org/10.1016/j.ajhg.2018.03.025

APA

CBE

Höben IM, Hjeij R, Olbrich H, Dougherty GW, Nöthe-Menchen T, Aprea I, Frank D, Pennekamp P, Dworniczak B, Wallmeier J, Raidt J, Nielsen KG, Philipsen MC, Santamaria F, Venditto L, Amirav I, Mussaffi H, Prenzel F, Wu K, Bakey Z, Schmidts M, Loges NT, Omran H. 2018. Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms. American Journal of Human Genetics. 102(5):973-984. https://doi.org/10.1016/j.ajhg.2018.03.025

MLA

Vancouver

Author

Höben, Inga M ; Hjeij, Rim ; Olbrich, Heike ; Dougherty, Gerard W ; Nöthe-Menchen, Tabea ; Aprea, Isabella ; Frank, Diana ; Pennekamp, Petra ; Dworniczak, Bernd ; Wallmeier, Julia ; Raidt, Johanna ; Nielsen, Kim G ; Philipsen, Maria C ; Santamaria, Francesca ; Venditto, Laura ; Amirav, Israel ; Mussaffi, Huda ; Prenzel, Freerk ; Wu, Kaman ; Bakey, Zeineb ; Schmidts, Miriam ; Loges, Niki T ; Omran, Heymut. / Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms. In: American Journal of Human Genetics. 2018 ; Vol. 102, No. 5. pp. 973-984.

Bibtex

@article{71ceafddb9cc425da9ee31e06a1ce4be,
title = "Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms",
abstract = "Primary ciliary dyskinesia (PCD) is characterized by chronic airway disease, male infertility, and randomization of the left/right body axis as a result of defects of motile cilia and sperm flagella. We identified loss-of-function mutations in the open-reading frame C11orf70 in PCD individuals from five distinct families. Transmission electron microscopy analyses and high-resolution immunofluorescence microscopy demonstrate that loss-of-function mutations in C11orf70 cause immotility of respiratory cilia and sperm flagella, respectively, as a result of the loss of axonemal outer (ODAs) and inner dynein arms (IDAs), indicating that C11orf70 is involved in cytoplasmic assembly of dynein arms. Expression analyses of C11orf70 showed that C11orf70 is expressed in ciliated respiratory cells and that the expression of C11orf70 is upregulated during ciliogenesis, similar to other previously described cytoplasmic dynein-arm assembly factors. Furthermore, C11orf70 shows an interaction with cytoplasmic ODA/IDA assembly factor DNAAF2, supporting our hypothesis that C11orf70 is a preassembly factor involved in the pathogenesis of PCD. The identification of additional genetic defects that cause PCD and male infertility is of great importance for the clinic as well as for genetic counselling.",
keywords = "Body Patterning, Cilia/metabolism, Dyneins/genetics, Female, Genes, Recessive, Humans, Kartagener Syndrome/genetics, Loss of Function Mutation/genetics, Male, Mutation/genetics, Nuclear Proteins/genetics, Sperm Tail/metabolism",
author = "H{\"o}ben, {Inga M} and Rim Hjeij and Heike Olbrich and Dougherty, {Gerard W} and Tabea N{\"o}the-Menchen and Isabella Aprea and Diana Frank and Petra Pennekamp and Bernd Dworniczak and Julia Wallmeier and Johanna Raidt and Nielsen, {Kim G} and Philipsen, {Maria C} and Francesca Santamaria and Laura Venditto and Israel Amirav and Huda Mussaffi and Freerk Prenzel and Kaman Wu and Zeineb Bakey and Miriam Schmidts and Loges, {Niki T} and Heymut Omran",
note = "Copyright {\circledC} 2018 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.",
year = "2018",
doi = "10.1016/j.ajhg.2018.03.025",
language = "English",
volume = "102",
pages = "973--984",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "5",

}

RIS

TY - JOUR

T1 - Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

AU - Höben, Inga M

AU - Hjeij, Rim

AU - Olbrich, Heike

AU - Dougherty, Gerard W

AU - Nöthe-Menchen, Tabea

AU - Aprea, Isabella

AU - Frank, Diana

AU - Pennekamp, Petra

AU - Dworniczak, Bernd

AU - Wallmeier, Julia

AU - Raidt, Johanna

AU - Nielsen, Kim G

AU - Philipsen, Maria C

AU - Santamaria, Francesca

AU - Venditto, Laura

AU - Amirav, Israel

AU - Mussaffi, Huda

AU - Prenzel, Freerk

AU - Wu, Kaman

AU - Bakey, Zeineb

AU - Schmidts, Miriam

AU - Loges, Niki T

AU - Omran, Heymut

N1 - Copyright © 2018 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

PY - 2018

Y1 - 2018

N2 - Primary ciliary dyskinesia (PCD) is characterized by chronic airway disease, male infertility, and randomization of the left/right body axis as a result of defects of motile cilia and sperm flagella. We identified loss-of-function mutations in the open-reading frame C11orf70 in PCD individuals from five distinct families. Transmission electron microscopy analyses and high-resolution immunofluorescence microscopy demonstrate that loss-of-function mutations in C11orf70 cause immotility of respiratory cilia and sperm flagella, respectively, as a result of the loss of axonemal outer (ODAs) and inner dynein arms (IDAs), indicating that C11orf70 is involved in cytoplasmic assembly of dynein arms. Expression analyses of C11orf70 showed that C11orf70 is expressed in ciliated respiratory cells and that the expression of C11orf70 is upregulated during ciliogenesis, similar to other previously described cytoplasmic dynein-arm assembly factors. Furthermore, C11orf70 shows an interaction with cytoplasmic ODA/IDA assembly factor DNAAF2, supporting our hypothesis that C11orf70 is a preassembly factor involved in the pathogenesis of PCD. The identification of additional genetic defects that cause PCD and male infertility is of great importance for the clinic as well as for genetic counselling.

AB - Primary ciliary dyskinesia (PCD) is characterized by chronic airway disease, male infertility, and randomization of the left/right body axis as a result of defects of motile cilia and sperm flagella. We identified loss-of-function mutations in the open-reading frame C11orf70 in PCD individuals from five distinct families. Transmission electron microscopy analyses and high-resolution immunofluorescence microscopy demonstrate that loss-of-function mutations in C11orf70 cause immotility of respiratory cilia and sperm flagella, respectively, as a result of the loss of axonemal outer (ODAs) and inner dynein arms (IDAs), indicating that C11orf70 is involved in cytoplasmic assembly of dynein arms. Expression analyses of C11orf70 showed that C11orf70 is expressed in ciliated respiratory cells and that the expression of C11orf70 is upregulated during ciliogenesis, similar to other previously described cytoplasmic dynein-arm assembly factors. Furthermore, C11orf70 shows an interaction with cytoplasmic ODA/IDA assembly factor DNAAF2, supporting our hypothesis that C11orf70 is a preassembly factor involved in the pathogenesis of PCD. The identification of additional genetic defects that cause PCD and male infertility is of great importance for the clinic as well as for genetic counselling.

KW - Body Patterning

KW - Cilia/metabolism

KW - Dyneins/genetics

KW - Female

KW - Genes, Recessive

KW - Humans

KW - Kartagener Syndrome/genetics

KW - Loss of Function Mutation/genetics

KW - Male

KW - Mutation/genetics

KW - Nuclear Proteins/genetics

KW - Sperm Tail/metabolism

U2 - 10.1016/j.ajhg.2018.03.025

DO - 10.1016/j.ajhg.2018.03.025

M3 - Journal article

VL - 102

SP - 973

EP - 984

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 5

ER -

ID: 59080972