CIB2基因在遗传性聋中的研究进展

陈梦兰;李云龙;

1:昆明理工大学附属医院

2:云南省第一人民医院

摘要
<正>现已发现约300多个基因与听力发生过程相关,其中,钙整合素结合蛋白2(calcium-and integrin-binding protein 2,CIB2)基因最近在遗传性耳聋相关致病基因研究中被频繁提及,目前发现的大多数CIB2基因突变确定与耳聋相关,主要导致非综合征型聋DFNB48和综合征型聋USH1、USH1J
关键词
基金项目(Foundation):
国家自然科学基金地区科学基金项目(81860190);; 云南省科学技术厅—昆明医科大学应用基础研究联合专项重点项目[2017FE468(-010)];; 云南省中青年学术和技术带头人后备人才(2017HB043);; 云南省卫生和计划生育委员会医学学科带头人(D-201668);; 云南省“万人计划”青年拔尖人才专项资助
作者
陈梦兰;李云龙;
参考文献

1 Richard EM,Santos RLP,Faridi R,et al.Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss[J].Hum Mutat,2019,40:53.

2 Riazuddin S,Giese A,Inna A,et al.Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1 J and nonsyndromic deafness DFNB48[J].Nat Genet,2012,44:1265.

3 Shearer AE.Deafness in the genomics era[J].Hear Res,2011,282:1.

4 Mangino M.Integrated multiomics approach identifies calcium and integrin-binding protein-2 as a novel gene for pulse wave velocity[J].J Hypertens,2015,34:79.

5 Patel K,Giese AP,Grossheim JM,et al.A novel C-terminal CIB2 (calcium and integrin binding protein 2) mutation associated with non-syndromic hearing loss in a hispanic family[J].PLoS One,2015,10:e0133082.

6 Seco CZ,Giese AP,Shafique S,et al.Novelan recurrent CIB2 variants,associated with nonsyndromic deafness,do not affect calcium buffering and localization in hair cells[J].Eur J Hum Genet,2016,24:542.

7 Naik UP,Patel PM,Parise LV.Identi?cation of a novel calcium-binding protein that interacts with the integrin aIIb cytoplasmic domain[J].J Biol Chem,1999,272:4651.

8 Wu X,Lieber MR.Interaction between DNA-dependent protein kinase and a novel protein,KIP[J].Mutat Res,1997,385:13.

9 Wright MH.Protein myristoylation in health and disease[J].J Chem Biol,2010,3:19.

10 Gentry HR,Singer AU,Betts L,et al.Structural and biochemical characterization of CIB1 delineates a new family of EF-hand-containing proteins[J].J Biol Chem,2005,280:8407.

11 Blamey CJ,Ceccarelli C,Naik UP,et al.The crystal structure of calcium- and integrin- binding protein 1:insights into redox regulated functions[J].Protein Sci,2005,14:1214.

12 Kikkawa Y,Seki Y,Okumura K,et al.Advantages of a mouse model for human hearing impairment[J].Exp Anim,2012,61:85.

13 Allen MD.A high-resolution structure of the EF-hand domain of human polycystin-2[J].Protein Sci,2014,23:1301.

14 Seco CZ,Arnaud P,Sha?que S,et al.Novel and recurrent CIB2 variants,associated with nonsyndromic deafness,do not affect calcium buffering and localization in hair cells[J].European Journal of Human Genetics,2016,24:542.

15 Blazejczyk M.Biochemical characterization and expression analysis of a novel EF-hand Ca2+ binding proteincalmyrin2 (Cib2) in brain indicates its function in NMDA receptor mediated Ca2+ signaling[J].Arch Biochem Biophys,2009,487:66.

16 Nam JH,Chen Q,Beurg M,et al.Calcium balance and mechanotransduction in rat cochlear hair cells[J].J Neurophysiol,2010,104:18.

17 Hynes RO.Integrins:bidirectional,allosteric signaling machines[J].Cell,2002,110:673.

18 Calderwood DA,Shattil SJ,Ginsberg MH,et al.Integrins and actin ?laments:reciprocal regulation of cell adhesion and signaling[J].J Biol Chem,2000,275:22607.

19 Hager M,Bigotti MG,Meszaros R,et al.Cib2 binds integrin α7Bβ1D and is reduced in laminin α2 chain-deficient muscular dystrophy[J].J Biol Chem,2008,283:24760.

20 李琦,贺军栋,王金丽,等.云南 337 名非综合征型聋患者CIB2基因 196C>T,272T > C 和 297 C > G 突变分析[J].昆明医科大学学报,2018,39:7.

21 Michel V,Booth KT,Patni P,et al.CIB2,defective in isolated deafness,is key for auditory hair cell mechanotransduction and survival[J].EMBO Mol Med,2017,9:1711.

22 Corey DP,Akyuz N,Holt JR,et al.Function and dysfunction of TMC channels in inner ear hair cells[J].Cold Spring Harb Perspect Med,2018,pii:a033506.

23 Huang L,Wilkinson MF.Regulation of nonsense-mediated mRNA decay[J].Wiley Interdiscip Rev RNA,2012,3:807.

24 Vallone R,Dal Cortivo G,D'Onofrio M,et al.Preferential binding of Mg2+ Over Ca2+ to CIB2 triggers an allosteric switch impaired in Usher syndrome type 1J[J].Front Mol Neurosci,2018,11:274.

25 Booth KT,Kahrizi K,Babanejad M,et al.Variants in CIB2 cause DFNB48 and not USH1J[J].Clin Genet,2018,93:812.

26 Booth KT,Aahrizik H,Kahrizi K,et al.PD1D7 and hearing loss:more than just a modifier[J].Am J Med Genet A,2015,167(A):2957.

27 Corns LF,Johnson SL,Kros CJ,et al.Calcium entry into stereocilia drives adaptation of the mechanoelectrical transducer current of mammalian cochlear hair cells[J].Proc Natl Acad Sci USA,2014,111:14918.

28 Mayer U.Integrins:redundant or important players in skeletal muscle [J].J Biol Chem,2003,278:14587.

29 Beurg M,Nam JH,Ricci AJ,et al.Calcium balance and mechanotransduction in rat cochlear hair cells[J].J Neurophysiol,2010,104:18.

30 Walters B,Zuo J.Postnatal development,maturation and aging in the mouse cochlea and their effects on hair cell regeneration[J].Hear Res,2013,297:68.

31 Giese APJ,Tang YQ,Sinha GP,et al.CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells[J].Nat Commun,2017,8:43.

32 Zou J,Chen Q,Almishaal A,et al.The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity incochlear hair cells[J].Hum Mol Genet,2017,26:624.

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陈梦兰李云龙