Expansion of polyalanine tracts in the QA domain may play a critical role in the clavicular development of cleidocranial dysplasia
详细信息 查看全文
- 作者：LI-ZHENG WU ; XIN-YUE XU ; YING-FENG LIU ; XIN GE ; XIAO-JING WANG
- 关键词：runt ; related transcription factor 2 ; QA domain ; polyalanine tracts ; cleidocranial dysplasia ; absent clavicles.
- 刊名：Journal of Genetics
- 出版年：2015
- 出版时间：September 2015
- 年：2015
- 卷：94
- 期：3
- 页码：551-553
- 全文大小：87 KB
- 参考文献：Alatzoglou K. S., Kelberman D., Cowell C. T., Palmer R., Arnhold I. J., Melo M. E. et al. 2011 Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism. J. Clin. Endocrinol. Metab. 96, E685鈥?E690.
Albrecht A. N., Kornak U., Boddrich A., Suring K., Robinson P. N., Stiege A. C. et al. 2004 A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Hum. Mol. Genet. 13, 2351鈥?359.
Brown L. Y and Brown S. A. 2004 Alanine tracts: the expanding story of human illness and trinucleotide repeats. Trends Genet. 20, 51鈥?8.
Du H., Hu H., Meng Y., Zheng W., Ling F., Wang J. et al. 2010 The correlation coefficient of GC content of the genome-wide genes is positively correlated with animal evolutionary relationships. FEBS Lett. 584, 3990鈥?994.
Gersak K., Harris S. E., Smale W. J. and Shelling A. N. 2004 A novel 30 bp deletion in the FOXL2 gene in a phenotypically normal woman with primary amenorrhoea: case report. Hum. Reprod. 19, 2767鈥?770.
Karlin S., Brocchieri L., Bergman A., Mrazek J. and Gentles A. J. 2002 Amino acid runs in eukaryotic proteomes and disease associations. Proc. Natl. Acad. Sci. USA 99, 333鈥?38.
Klein A. F., Ebihara M., Alexander C., Dicaire M. J., Sasseville A. M., Langelier Y. et al. 2008 PABPN1 polyalanine tract deletion and long expansions modify its aggregation pattern and expression. Exp. Cell. Res. 314, 1652鈥?666.
Komori T., Yagi H., Nomura S., Yamaguchi A., Sasaki K., Deguchi K. et al. 1997 Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts. Cell 89, 755鈥?64.
Kundu M., Javed A., Jeon J. P., Horner A., Shum L., Eckhaus M. et al. 2002 Cbfbeta interacts with Runx2 and has a critical role in bone development. Nat. Genet. 32, 639鈥?44.
Lavoie H., Debeane F., Trinh Q. D., Turcotte J. F., Corbeil-Girard L. P., Dicaire M. J. et al. 2003 Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains. Hum. Mol. Genet. 12, 2967鈥?979.
Moumne L., Fellous M. and Veitia R. A. 2005 Deletions in the polyAlanine-containing transcription factor FOXL2 lead to intranuclear aggregation. Hum. Mol. Genet. 14, 3557鈥?3564.
Mundlos S., Otto F., Mundlos C., Mulliken J. B., Aylsworth A. S., Albright S. et al. 1997 Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 89, 773鈥?79.
Otto F., Kanegane H. and Mundlos S. 2002 Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Hum. Mutat. 19, 209鈥?16.
Pelassa I., Cora D., Cesano F., Monje F. J., Montarolo P. G. and Fiumara F. 2014 Association of polyalanine and polyglutamine coiled coils mediates expansion disease-related protein aggregation and dysfunction. Hum. Mol. Genet. 23, 3402鈥?3420.
Qin X., Jiang Q., Matsuo Y., Kawane T., Komori H., Moriishi T. et al. 2014 Cbfb regulates bone development by stabilizing Runx family proteins. J. Bone Miner. Res. 30, 706鈥?14.
Romer A. S and Parsons T. S. 1977 The vertebrate body, pp. 184鈥?86. Holt-Saunders International, Philadelphia, USA.
Siwach P., Pophaly S. D. and Ganesh S. 2006 Genomic and evolutionary insights into genes encoding proteins with single amino acid repeats. Mol. Biol. Evol. 23, 1357鈥?369.
Siwach P., Sengupta S., Parihar R. and Ganesh S. 2009 Spatial positions of homopolymeric repeats in the human proteome and their effect on cellular toxicity. Biochem. Biophys. Res. Commun. 380, 382鈥?86.
Tang S., Xu Q., Xu X., Du J., Yang X., Jiang Y. et al. 2007 A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails. BMC Med. Genet. 8, 82.
Thirunavukkarasu K., Mahajan M., McLarren K. W., Stifani S. and Karsenty G. 1998 Two domains unique to osteoblast-specific transcription factor Osf2/Cbfa1 contribute to its transactivation function and its inability to heterodimerize with Cbfbeta. Mol. Cell. Biol. 18, 4197鈥?208.
Vaughan T., Pasco J. A., Kotowicz M. A., Nicholson G. C. and Morrison N. A. 2002 Alleles of RUNX2/CBFA1 gene are associated with differences in bone mineral density and risk of fracture. J. Bone. Miner. Res. 17, 1527鈥?534. - 作者单位：LI-ZHENG WU (1) (2)
XIN-YUE XU (1)
YING-FENG LIU (1)
XIN GE (1)
XIAO-JING WANG (1)
1. State Key Laboratory of Military Stomatology, Department of Pediatric Dentistry, School of Stomatology, The fourth Military Medical University, Xi鈥檃n, Shaanxi, 710032, People鈥檚 Republic of China
2. Department of Stomatology, The Affiliated Hospital of Logistics University of CAPF, Tianjin, 300171, People鈥檚 Republic of China. - 刊物主题：Life Sciences, general; Microbial Genetics and Genomics; Plant Genetics & Genomics; Animal Genetics and Genomics; Evolutionary Biology;
- 出版者：Springer India
- ISSN：0973-7731
文摘