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

Research output: Contribution to journalArticle

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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 languageEnglish
Pages (from-to)1265-1271
Number of pages7
JournalNature Genetics
Volume44
Issue number11
DOIs
StatePublished - Nov 1 2012

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Usher Syndromes
Calcium-Binding Proteins
Integrins
Deafness
Mutation
Vertebrate Photoreceptor Cells
Calcium
Inner Auditory Hair Cells
Stereocilia
Sensorineural Hearing Loss
Pakistan
Zebrafish
Inner Ear
Drosophila melanogaster
Vertebrates
Epithelium
Adenosine Triphosphate
Nonsyndromic Deafness
Autosomal Recessive 48 Deafness

ASJC Scopus subject areas

  • Genetics

Cite this

Riazuddin, S., Belyantseva, I. A., Giese, A. P. J., Lee, K., Indzhykulian, A. A., Nandamuri, S. P., ... 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

Alterations of the CIB2 calcium-and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. / Riazuddin, Saima; Belyantseva, Inna A.; Giese, Arnaud P J; Lee, Kwanghyuk; Indzhykulian, Artur A.; Nandamuri, Sri Pratima; Yousaf, Rizwan; Sinha, Ghanshyam P.; Lee, Sue; Terrell, David; Hegde, Rashmi S.; Ali, Rana A.; Anwar, Saima; Andrade-Elizondo, Paula B.; Sirmaci, Asli; Parise, Leslie V.; Basit, Sulman; Wali, Abdul; Ayub, Muhammad; Ansar, Muhammad; Ahmad, Wasim; Khan, Shaheen N.; Akram, Javed; Tekin, Mustafa; Riazuddin, Sheikh; Cook, Tiffany; Buschbeck, Elke K.; Frolenkov, Gregory I.; Leal, Suzanne M.; Friedman, Thomas B.; Ahmed, Zubair M.

In: Nature Genetics, Vol. 44, No. 11, 01.11.2012, p. 1265-1271.

Research output: Contribution to journalArticle

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
Riazuddin S, Belyantseva IA, Giese APJ, Lee K, Indzhykulian AA, Nandamuri SP et al. Alterations of the CIB2 calcium-and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nature Genetics. 2012 Nov 1;44(11):1265-1271. https://doi.org/10.1038/ng.2426
Riazuddin, Saima ; Belyantseva, Inna A. ; Giese, Arnaud P J ; Lee, Kwanghyuk ; Indzhykulian, Artur A. ; Nandamuri, Sri Pratima ; Yousaf, Rizwan ; Sinha, Ghanshyam P. ; Lee, Sue ; Terrell, David ; Hegde, Rashmi S. ; Ali, Rana A. ; Anwar, Saima ; Andrade-Elizondo, Paula B. ; Sirmaci, Asli ; Parise, Leslie V. ; Basit, Sulman ; Wali, Abdul ; Ayub, Muhammad ; Ansar, Muhammad ; Ahmad, Wasim ; Khan, Shaheen N. ; Akram, Javed ; Tekin, Mustafa ; Riazuddin, Sheikh ; Cook, Tiffany ; Buschbeck, Elke K. ; Frolenkov, Gregory I. ; Leal, Suzanne M. ; Friedman, Thomas B. ; Ahmed, Zubair M. / Alterations of the CIB2 calcium-and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. In: Nature Genetics. 2012 ; Vol. 44, No. 11. pp. 1265-1271.
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AU - Lee, Kwanghyuk

AU - Indzhykulian, Artur A.

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AU - Yousaf, Rizwan

AU - Sinha, Ghanshyam P.

AU - Lee, Sue

AU - Terrell, David

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AU - Ayub, Muhammad

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AU - Ahmad, Wasim

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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.

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