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Gene Review:

EXT3 - exostoses (multiple) 3

Homo sapiens

Synonyms: EXT2

Bergeron, A. et al., Wuyts, W. et al., Shi, Y.R. et al., Hecht, J.T. et al., Xu, L. et al., et al.

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Disease relevance of EXT3

One sporadic chondrosarcoma demonstrated LOH for EXT1 and EXT3, while a second underwent LOH for EXT2 and chromosome 10 [1].

High impact information on EXT3

EXT is genetically heterogeneous, and three loci have been identified so far: EXT1, on chromosome 8q23-q24; EXT2, on 11p11-p12; and EXT3, on the short arm of chromosome 19 [2].
HME is genetically heterogeneous, with at least three loci, on 8q24.1 (EXT1), 11p11-p13 (EXT2), and 19p (EXT3) [3].
This genetically heterozygous disease comprises three chromosomal loci: the EXT1 gene on chromosome 8q23-q24, EXT2 on 11p11-p13, and EXT3 on 19p [4].

Anatomical context of EXT3

This method resulted in 46 +/- 3% motility of the thawed spermatozoa and a mortality rate of 39 +/- 4% whereas Ext2 and Ext3 resulted in motility rates of only 10 and 5%. respectively [5].
To test the hypothesis that adjusting semen extender composition and dilution ratio increases sperm quality after thawing, three extenders (Ext1, Ext2, Ext3; all with DMSO as a cryoprotectant) and three dilution ratios (semen/extender: 1:5, 1:9, 1:15) were screened [5].

Other interactions of EXT3

It is genetically heterogeneous with at least three chromosomal loci: EXT1 on 8q24.1, EXT2 on 11p11, and EXT3 on 19p [6].

References

Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. Hecht, J.T., Hogue, D., Wang, Y., Blanton, S.H., Wagner, M., Strong, L.C., Raskind, W., Hansen, M.F., Wells, D. Am. J. Hum. Genet. (1997) [Pubmed]
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. Wuyts, W., Van Hul, W., De Boulle, K., Hendrickx, J., Bakker, E., Vanhoenacker, F., Mollica, F., Lüdecke, H.J., Sayli, B.S., Pazzaglia, U.E., Mortier, G., Hamel, B., Conrad, E.U., Matsushita, M., Raskind, W.H., Willems, P.J. Am. J. Hum. Genet. (1998) [Pubmed]
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. Philippe, C., Porter, D.E., Emerton, M.E., Wells, D.E., Simpson, A.H., Monaco, A.P. Am. J. Hum. Genet. (1997) [Pubmed]
Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan. Shi, Y.R., Wu, J.Y., Hsu, Y.A., Lee, C.C., Tsai, C.H., Tsai, F.J. Genet. Test. (2002) [Pubmed]
Comparison of extenders, dilution ratios and theophylline addition on the function of cryopreserved walleye semen. Bergeron, A., Vandenberg, G., Proulx, D., Bailey, J.L. Theriogenology (2002) [Pubmed]
Mutation analysis of hereditary multiple exostoses in the Chinese. Xu, L., Xia, J., Jiang, H., Zhou, J., Li, H., Wang, D., Pan, Q., Long, Z., Fan, C., Deng, H.X. Hum. Genet. (1999) [Pubmed]

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