Alterations of the CIB2 calcium-and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

Saima Riazuddin; Inna A. Belyantseva; Arnaud P.J. Giese; Kwanghyuk Lee; Artur A. Indzhykulian; Sri Pratima Nandamuri; Rizwan Yousaf; Ghanshyam P. Sinha; Sue Lee; David Terrell; Rashmi S. Hegde; Rana A. Ali; Saima Anwar; Paula B. Andrade-Elizondo; Asli Sirmaci; Leslie V. Parise; Sulman Basit; Abdul Wali; Muhammad Ayub; Muhammad Ansar; Wasim Ahmad; Shaheen N. Khan; Javed Akram; Mustafa Tekin; Sheikh Riazuddin; Tiffany Cook; Elke K. Buschbeck; Gregory I. Frolenkov; Suzanne M. Leal; Thomas B. Friedman; Zubair M. Ahmed

doi:10.1038/ng.2426

Alterations of the CIB2 calcium-and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

Saima Riazuddin, Inna A. Belyantseva, Arnaud P.J. Giese, Kwanghyuk Lee, Artur A. Indzhykulian, Sri Pratima Nandamuri, Rizwan Yousaf, Ghanshyam P. Sinha, Sue Lee, David Terrell, Rashmi S. Hegde, Rana A. Ali, Saima Anwar, Paula B. Andrade-Elizondo, Asli Sirmaci, Leslie V. Parise, Sulman Basit, Abdul Wali, Muhammad Ayub, Muhammad AnsarWasim Ahmad, Shaheen N. Khan, Javed Akram, Mustafa Tekin, Sheikh Riazuddin, Tiffany Cook, Elke K. Buschbeck, Gregory I. Frolenkov, Suzanne M. Leal, Thomas B. Friedman, Zubair M. Ahmed

Physiology

Research output: Contribution to journal › Article › peer-review

191 Scopus citations

Abstract

Sensorineural hearing loss is genetically heterogeneous. Here, we report that mutations in CIB2, which encodes a calcium-and integrin-binding protein, are associated with nonsyndromic deafness (DFNB48) and Usher syndrome type 1J (USH1J). One mutation in CIB2 is a prevalent cause of deafness DFNB48 in Pakistan; other CIB2 mutations contribute to deafness elsewhere in the world. In mice, CIB2 is localized to the mechanosensory stereocilia of inner ear hair cells and to retinal photoreceptor and pigmented epithelium cells. Consistent with molecular modeling predictions of calcium binding, CIB2 significantly decreased the ATP-induced calcium responses in heterologous cells, whereas mutations in deafness DFNB48 altered CIB2 effects on calcium responses. Furthermore, in zebrafish and Drosophila melanogaster, CIB2 is essential for the function and proper development of hair cells and retinal photoreceptor cells. We also show that CIB2 is a new member of the vertebrate Usher interactome.

Original language	English
Pages (from-to)	1265-1271
Number of pages	7
Journal	Nature Genetics
Volume	44
Issue number	11
DOIs	https://doi.org/10.1038/ng.2426
State	Published - Nov 2012

Bibliographical note

Funding Information:
We thank the families for their participation and cooperation. We also thank G.N. Sarangdhar, R. Rachel, T. Jaworek, V. Ponferrada and K. Gul for technical assistance and R.J. Morell, J. Schultz, D. Drayna, A. Swaroop and A.J. Griffith for critique of the manuscript. We thank T.M. Leisner (University of North Carolina at Chapel Hill) for the generous gift of antibodies to CIB. Genotyping services were provided to S.M.L. by the Center for Inherited Disease Research (CIDR). CIDR is fully funded through a federal contract (N01-HG-65403) from the US National Institutes of Health (NIH) to Johns Hopkins University. Z.M.A. is a recipient of a Research to Prevent Blindness Career Development Award. This work was also supported by funding from the Higher Education Commission and the Ministry of Science and Technology (Islamabad, Pakistan) to Sheikh Riazuddin and W.A., the International Center for Genetic Engineering and Biotechnology (Trieste, Italy) under project CRP/PAK08-01 contract 08/009 to Sheikh Riazuddin, the Cincinnati Children’s Hospital Research Foundation (CCHMC) Intramural Research Funds to Saima Riazuddin and Z.M.A., a National Science Foundation grant (IOS-1050754) to E.K.B., US National Institute on Deafness and Other Communication Disorders (NIDCD/NIH) research grants R01 DC03594 and DC011651 to S.M.L., R01 HL092544 to L.V.P., R01 DC009645 to M.T., R01 DC008861 to G.I.F., R01 DC012564 and R00 DC009287 to Z.M.A., and R01 DC011803 and R01 DC011748 to Saima Riazuddin, and intramural funds from the NIDCD (DC000039-15) to T.B.F.

ASJC Scopus subject areas

Genetics

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10.1038/ng.2426

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Riazuddin, S., Belyantseva, I. A., Giese, A. P. J., Lee, K., Indzhykulian, A. A., Nandamuri, S. P., Yousaf, R., Sinha, G. P., Lee, S., Terrell, D., Hegde, R. S., Ali, R. A., Anwar, S., Andrade-Elizondo, P. B., Sirmaci, A., Parise, L. V., Basit, S., Wali, A., Ayub, M., ... Ahmed, Z. M. (2012). Alterations of the CIB2 calcium-and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nature Genetics, 44(11), 1265-1271. https://doi.org/10.1038/ng.2426

@article{2c11e384c044404d8070cc7cbea2ed00,

title = "Alterations of the CIB2 calcium-and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48",

abstract = "Sensorineural hearing loss is genetically heterogeneous. Here, we report that mutations in CIB2, which encodes a calcium-and integrin-binding protein, are associated with nonsyndromic deafness (DFNB48) and Usher syndrome type 1J (USH1J). One mutation in CIB2 is a prevalent cause of deafness DFNB48 in Pakistan; other CIB2 mutations contribute to deafness elsewhere in the world. In mice, CIB2 is localized to the mechanosensory stereocilia of inner ear hair cells and to retinal photoreceptor and pigmented epithelium cells. Consistent with molecular modeling predictions of calcium binding, CIB2 significantly decreased the ATP-induced calcium responses in heterologous cells, whereas mutations in deafness DFNB48 altered CIB2 effects on calcium responses. Furthermore, in zebrafish and Drosophila melanogaster, CIB2 is essential for the function and proper development of hair cells and retinal photoreceptor cells. We also show that CIB2 is a new member of the vertebrate Usher interactome.",

author = "Saima Riazuddin and Belyantseva, {Inna A.} and Giese, {Arnaud P.J.} and Kwanghyuk Lee and Indzhykulian, {Artur A.} and Nandamuri, {Sri Pratima} and Rizwan Yousaf and Sinha, {Ghanshyam P.} and Sue Lee and David Terrell and Hegde, {Rashmi S.} and Ali, {Rana A.} and Saima Anwar and Andrade-Elizondo, {Paula B.} and Asli Sirmaci and Parise, {Leslie V.} and Sulman Basit and Abdul Wali and Muhammad Ayub and Muhammad Ansar and Wasim Ahmad and Khan, {Shaheen N.} and Javed Akram and Mustafa Tekin and Sheikh Riazuddin and Tiffany Cook and Buschbeck, {Elke K.} and Frolenkov, {Gregory I.} and Leal, {Suzanne M.} and Friedman, {Thomas B.} and Ahmed, {Zubair M.}",

note = "Funding Information: We thank the families for their participation and cooperation. We also thank G.N. Sarangdhar, R. Rachel, T. Jaworek, V. Ponferrada and K. Gul for technical assistance and R.J. Morell, J. Schultz, D. Drayna, A. Swaroop and A.J. Griffith for critique of the manuscript. We thank T.M. Leisner (University of North Carolina at Chapel Hill) for the generous gift of antibodies to CIB. Genotyping services were provided to S.M.L. by the Center for Inherited Disease Research (CIDR). CIDR is fully funded through a federal contract (N01-HG-65403) from the US National Institutes of Health (NIH) to Johns Hopkins University. Z.M.A. is a recipient of a Research to Prevent Blindness Career Development Award. This work was also supported by funding from the Higher Education Commission and the Ministry of Science and Technology (Islamabad, Pakistan) to Sheikh Riazuddin and W.A., the International Center for Genetic Engineering and Biotechnology (Trieste, Italy) under project CRP/PAK08-01 contract 08/009 to Sheikh Riazuddin, the Cincinnati Children{\textquoteright}s Hospital Research Foundation (CCHMC) Intramural Research Funds to Saima Riazuddin and Z.M.A., a National Science Foundation grant (IOS-1050754) to E.K.B., US National Institute on Deafness and Other Communication Disorders (NIDCD/NIH) research grants R01 DC03594 and DC011651 to S.M.L., R01 HL092544 to L.V.P., R01 DC009645 to M.T., R01 DC008861 to G.I.F., R01 DC012564 and R00 DC009287 to Z.M.A., and R01 DC011803 and R01 DC011748 to Saima Riazuddin, and intramural funds from the NIDCD (DC000039-15) to T.B.F.",

year = "2012",

month = nov,

doi = "10.1038/ng.2426",

language = "English",

volume = "44",

pages = "1265--1271",

number = "11",

}

Riazuddin, S, Belyantseva, IA, Giese, APJ, Lee, K, Indzhykulian, AA, Nandamuri, SP, Yousaf, R, Sinha, GP, Lee, S, Terrell, D, Hegde, RS, Ali, RA, Anwar, S, Andrade-Elizondo, PB, Sirmaci, A, Parise, LV, Basit, S, Wali, A, Ayub, M, Ansar, M, Ahmad, W, Khan, SN, Akram, J, Tekin, M, Riazuddin, S, Cook, T, Buschbeck, EK, Frolenkov, GI, Leal, SM, Friedman, TB & Ahmed, ZM 2012, 'Alterations of the CIB2 calcium-and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48', Nature Genetics, vol. 44, no. 11, pp. 1265-1271. https://doi.org/10.1038/ng.2426

TY - JOUR

T1 - Alterations of the CIB2 calcium-and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

AU - Riazuddin, Saima

AU - Belyantseva, Inna A.

AU - Giese, Arnaud P.J.

AU - Lee, Kwanghyuk

AU - Indzhykulian, Artur A.

AU - Nandamuri, Sri Pratima

AU - Yousaf, Rizwan

AU - Sinha, Ghanshyam P.

AU - Lee, Sue

AU - Terrell, David

AU - Hegde, Rashmi S.

AU - Ali, Rana A.

AU - Anwar, Saima

AU - Andrade-Elizondo, Paula B.

AU - Sirmaci, Asli

AU - Parise, Leslie V.

AU - Basit, Sulman

AU - Wali, Abdul

AU - Ayub, Muhammad

AU - Ansar, Muhammad

AU - Ahmad, Wasim

AU - Khan, Shaheen N.

AU - Akram, Javed

AU - Tekin, Mustafa

AU - Riazuddin, Sheikh

AU - Cook, Tiffany

AU - Buschbeck, Elke K.

AU - Frolenkov, Gregory I.

AU - Leal, Suzanne M.

AU - Friedman, Thomas B.

AU - Ahmed, Zubair M.

N1 - Funding Information: We thank the families for their participation and cooperation. We also thank G.N. Sarangdhar, R. Rachel, T. Jaworek, V. Ponferrada and K. Gul for technical assistance and R.J. Morell, J. Schultz, D. Drayna, A. Swaroop and A.J. Griffith for critique of the manuscript. We thank T.M. Leisner (University of North Carolina at Chapel Hill) for the generous gift of antibodies to CIB. Genotyping services were provided to S.M.L. by the Center for Inherited Disease Research (CIDR). CIDR is fully funded through a federal contract (N01-HG-65403) from the US National Institutes of Health (NIH) to Johns Hopkins University. Z.M.A. is a recipient of a Research to Prevent Blindness Career Development Award. This work was also supported by funding from the Higher Education Commission and the Ministry of Science and Technology (Islamabad, Pakistan) to Sheikh Riazuddin and W.A., the International Center for Genetic Engineering and Biotechnology (Trieste, Italy) under project CRP/PAK08-01 contract 08/009 to Sheikh Riazuddin, the Cincinnati Children’s Hospital Research Foundation (CCHMC) Intramural Research Funds to Saima Riazuddin and Z.M.A., a National Science Foundation grant (IOS-1050754) to E.K.B., US National Institute on Deafness and Other Communication Disorders (NIDCD/NIH) research grants R01 DC03594 and DC011651 to S.M.L., R01 HL092544 to L.V.P., R01 DC009645 to M.T., R01 DC008861 to G.I.F., R01 DC012564 and R00 DC009287 to Z.M.A., and R01 DC011803 and R01 DC011748 to Saima Riazuddin, and intramural funds from the NIDCD (DC000039-15) to T.B.F.

PY - 2012/11

Y1 - 2012/11

N2 - Sensorineural hearing loss is genetically heterogeneous. Here, we report that mutations in CIB2, which encodes a calcium-and integrin-binding protein, are associated with nonsyndromic deafness (DFNB48) and Usher syndrome type 1J (USH1J). One mutation in CIB2 is a prevalent cause of deafness DFNB48 in Pakistan; other CIB2 mutations contribute to deafness elsewhere in the world. In mice, CIB2 is localized to the mechanosensory stereocilia of inner ear hair cells and to retinal photoreceptor and pigmented epithelium cells. Consistent with molecular modeling predictions of calcium binding, CIB2 significantly decreased the ATP-induced calcium responses in heterologous cells, whereas mutations in deafness DFNB48 altered CIB2 effects on calcium responses. Furthermore, in zebrafish and Drosophila melanogaster, CIB2 is essential for the function and proper development of hair cells and retinal photoreceptor cells. We also show that CIB2 is a new member of the vertebrate Usher interactome.

AB - Sensorineural hearing loss is genetically heterogeneous. Here, we report that mutations in CIB2, which encodes a calcium-and integrin-binding protein, are associated with nonsyndromic deafness (DFNB48) and Usher syndrome type 1J (USH1J). One mutation in CIB2 is a prevalent cause of deafness DFNB48 in Pakistan; other CIB2 mutations contribute to deafness elsewhere in the world. In mice, CIB2 is localized to the mechanosensory stereocilia of inner ear hair cells and to retinal photoreceptor and pigmented epithelium cells. Consistent with molecular modeling predictions of calcium binding, CIB2 significantly decreased the ATP-induced calcium responses in heterologous cells, whereas mutations in deafness DFNB48 altered CIB2 effects on calcium responses. Furthermore, in zebrafish and Drosophila melanogaster, CIB2 is essential for the function and proper development of hair cells and retinal photoreceptor cells. We also show that CIB2 is a new member of the vertebrate Usher interactome.

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Alterations of the CIB2 calcium-and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

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