A mouse model of urofacial syndrome with dysfunctional urination

Human Molecular Genetics

Volumn 24, Issue 7, 2014, Pages 1991-1999

  Guo, Chunming ^a,b   Kaneko, Satoshi ^a,b   Sun, Ye ^b   Huang, Yichen ^a   Vlodavsky, Israel ^c   Li, Xiaokun ^d   Li, Zhong Rong ^d   Li, Xue ^a,b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^d WENZHOU MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ALBUMIN; ALKALINE PHOSPHATASE; AMYLASE; CALCIUM ION; GLOBULIN; GLUCOSE; NITROGEN; PHOSPHORUS; SODIUM ION; TRANSFORMING GROWTH FACTOR BETA; UREA; BETA GLUCURONIDASE; HEPARANASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD CHEMISTRY; CELL FATE; CELL PROLIFERATION; CONTROLLED STUDY; CYSTITIS; DETRUSOR MUSCLE; GENE; GENE DELETION; GENE EXPRESSION; GENOTYPE; GROWTH RETARDATION; HETEROZYGOTE; HPSE2 GENE; KIDNEY DYSFUNCTION; KNOCKOUT MOUSE; MALNUTRITION; MICTURITION DISORDER; MOUSE; MOUSE MODEL; NEWBORN; NONHUMAN; PHENOTYPE; POSTNATAL DEVELOPMENT; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; UREA NITROGEN BLOOD LEVEL; URINALYSIS; URINE INCONTINENCE; UROFACIAL SYNDROME; WILD TYPE; ANIMAL; DISEASE MODEL; ENZYMOLOGY; FACIES; FEMALE; GENETICS; HUMAN; MALE; METABOLISM; PATHOLOGY; SIGNAL TRANSDUCTION; URINARY TRACT DISEASE;

MUS;

ANIMALS; DISEASE MODELS, ANIMAL; FACIES; FEMALE; GENE DELETION; GLUCURONIDASE; HUMANS; MALE; MICE; MICE, KNOCKOUT; PHENOTYPE; SIGNAL TRANSDUCTION; TRANSFORMING GROWTH FACTOR BETA; UROLOGIC DISEASES;

EID: 84926488624     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu613     Document Type: Article

References (23)

1. Ochoa, B. (2004) Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated. Pediatr Nephrol, 19, 6-12.
2. Woolf, A.S., Stuart, H.M., Roberts, N.A., McKenzie, E.A., Hilton, E.N. and Newman, W.G. (2014) Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation. Pediatr Nephrol, 29, 513-518.
3. Daly, S.B., Urquhart, J.E., Hilton, E., McKenzie, E.A., Kammerer, R.A., Lewis, M., Kerr, B., Stuart, H., Donnai, D., Long, D.A. et al. (2010) Mutations in HPSE2 cause urofacial syndrome. Am J Hum Genet, 86, 963-969.
4. Pang, J., Zhang, S., Yang, P., Hawkins-Lee, B., Zhong, J., Zhang, Y., Ochoa, B., Agundez, J.A., Voelckel, M.A., Gu,W. et al. (2010) Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome. Am J Hum Genet, 86, 957-962.
5. Al Badr, W., Al Bader, S., Otto, E., Hildebrandt, F., Ackley, T., Peng, W., Xu, J., Li, J., Owens, K.M., Bloom, D. et al. (2011) Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome. J Pediatr Urol, 7, 569-573.
6. Mahmood, S., Beetz, C., Tahir, M., Imran, M., Mumtaz, R., Bassmann, I., Jahic, A., Malik, M., Nurnberg, G., Hassan, S. et al. (2012) First HPSE2 missense mutation in urofacial syndrome. Clin Genet, 81, 88-92.
7. Levy-Adam, F., Feld, S., Cohen-Kaplan, V., Shteingauz, A., Gross, M., Arvatz, G., Naroditsky, I., Ilan, N., Doweck, I. and Vlodavsky, I. (2010) Heparanase 2 interacts with heparan sulfate with high affinity and inhibits heparanase activity. J Biol Chem, 285, 28010-28019.
8. Stuart, H.M., Roberts, N.A., Burgu, B., Daly, S.B., Urquhart, J.E., Bhaskar, S., Dickerson, J.E., Mermerkaya, M., Silay, M.S., Lewis, M.A. et al. (2013) LRIG2 mutations cause urofacial syndrome. Am J Hum Genet, 92, 259-264.
9. Del Rio, T., Nishitani, A.M., Yu,W.M. and Goodrich, L.V. (2013) In vivo analysis of Lrig genes reveals redundant and independent functions in the inner ear. PLoS Genet, 9, e1003824.
10. Rondahl, V., Holmlund, C., Karlsson, T., Wang, B., Faraz, M., Henriksson, R. and Hedman, H. (2013) Lrig2-deficient mice are protected against PDGFB-induced glioma. PLoS One, 8, e73635.
11. Yu, W., Ackert-Bicknell, C., Larigakis, J.D., MacIver, B., Steers, W.D., Churchill, G.A., Hill, W.G. and Zeidel, M.L. (2014) Spontaneous voiding by mice reveals strain-specific lower urinary tract function to be a quantitative genetic trait. Am J Physiol Renal Physiol, 306, F1296-F1307.
12. Sugino,Y.,Kanematsu,A., Hayashi, Y.,Haga, H.,Yoshimura,N., Yoshimura, K. andOgawa,O. (2008)Voided stain on papermethod for analysis ofmouse urination. NeurourolUrodyn, 27, 548-552.
13. Andersson, K.E., Soler, R. and Fullhase, C. (2011) Rodentmodels for urodynamic investigation. Neurourol Urodyn, 30, 636-646.
14. Lyon, M., Rushton, G. and Gallagher, J.T. (1997) The interaction of the transforming growth factor-betas with heparin/ heparan sulfate is isoform-specific. J Biol Chem, 272, 18000-18006.
15. Metcalfe, P.D.,Wang, J., Jiao, H., Huang, Y., Hori, K., Moore, R.B. and Tredget, E.E. (2010) Bladder outlet obstruction: progression from inflammation to fibrosis. BJU Int, 106, 1686-1694.
16. Li, G.Y., Cui, W.S., Zhou, F., Gao, Z.Z., Xin, H., Liu, T., Li, W.R., Gong, Y.Q., Bai, G.Y., Guo, Y.L. et al. (2012) Pathology of urethral fibromuscular system related to parturition-induced stress urinary incontinence and TGF-beta1/Smad pathway. Mol Cel Biochem, 364, 329-335.
17. Zcharia, E., Metzger, S., Chajek-Shaul, T., Aingorn, H., Elkin, M., Friedmann, Y., Weinstein, T., Li, J.P., Lindahl, U. and Vlodavsky, I. (2004) Transgenic expression of mammalian heparanase uncovers physiological functions of heparan sulfate in tissue morphogenesis, vascularization, and feeding behavior. FASEB J, 18, 252-263.
18. Deveaud, C.M., Macarak, E.J., Kucich, U., Ewalt, D.H., Abrams, W.R. and Howard, P.S. (1998) Molecular analysis of collagens in bladder fibrosis. J Urol, 160, 1518-1527.
19. Azadzoi, K.M., Tarcan, T., Siroky, M.B. and Krane, R.J. (1999) Atherosclerosis-induced chronic ischemia causes bladder fibrosis and non-compliance in the rabbit. J Urol, 161, 1626-1635.
20. Lin, G., Shindel, A.W., Banie, L., Deng, D., Wang, G., Hayashi, N., Lin, C.S. and Lue, T.F. (2009) Molecular mechanisms related to parturition-induced stress urinary incontinence. Eur Urol, 55, 1213-1222.
21. Wang, C., Gargollo, P., Guo, C., Tang, T., Mingin, G., Sun, Y. and Li, X. (2011) Six1 and Eya1 are critical regulators of peri-cloacal mesenchymal progenitors during genitourinary tract development. Dev Biol, 360, 186-194.
22. Guo, C., Sun, Y., Guo, C., MacDonald, B.T., Borer, J.G. and Li, X. (2014) Dkk1 in the peri-cloaca mesenchyme regulates formation of anorectal and genitourinary tracts. Dev Biol, 385, 41-51.
23. Guo, C., Sun, Y., Zhou, B., Adam, R.M., Li, X., Pu,W.T., Morrow, B.E., Moon, A. and Li, X. (2011) A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis. J Clin Invest, 121, 1585-1595.