Dissection of the genetic mechanisms underlying congenital anal atresia in pigs

Kai Jiang; Yuyun Xing; Pan Xu; Qiang Yang; Chuanmin Qiao; Weiwei Liu; Hao Chen; Yuyong He; Jun Ren; Lusheng Huang

doi:10.1016/j.jgg.2020.05.003

Volume 47 Issue 5

May 2020

Turn off MathJax

Article Contents

Article Navigation > Journal of Genetics and Genomics > 2020 > 47(5): 285-288

PDF( 1194 KB)

Dissection of the genetic mechanisms underlying congenital anal atresia in pigs

doi: 10.1016/j.jgg.2020.05.003

1
State Key Laboratory of Pig Genetic Improvement and Production Technology, Jiangxi Agricultural University, Nanchang, 330045, China
2
School of Life Sciences, Jinggangshan University, JiAn, 343009, China
3
State Key Laboratory of Pig Genetic Improvement and Production Technology, Jiangxi Agricultural University, Nanchang, 330045, China

More Information

Corresponding author: E-mail address: xingyuyun9@hotmail.com (Yuyun Xing); E-mail address: renjunjxau@hotmail.com (Jun Ren)
Publish Date: 2020-05-25

Abstract

Current address: College of Animal Science, South China Agricultural University, 510642, Guangzhou, China.

FullText(HTML)

References(22)

References

[1]	Carafoli, E., Molinari, M., 1998. Calpain: a protease in search of a function? Biochem Biophys Res Commun 247, 193-203.
[2]	Cassini, P., Montironi, A., Botti, S., Hori, T., Okhawa, H., Stella, A., Andersson, L., Giuffra, E., 2005. Genetic analysis of anal atresia in pigs: evidence for segregation at two main loci. Mamm Genome 16, 164-170.
[3]	Cuschieri, A., 2001. Descriptive epidemiology of isolated anal anomalies: a survey of 4.6 million births in Europe. Am J Med Genet 103, 207-215.
[4]	De Santa Barbara, P., Williams, J., Goldstein, A.M., Doyle, A.M., Nielsen, C., Winfield, S., Faure, S., Roberts, D.J., 2005. Bone morphogenetic protein signaling pathway plays multiple roles during gastrointestinal tract development. Dev Dyn 234, 312-322.
[5]	Hori, T., Giuffra, E., Andersson, L., Ohkawa, H., 2001. Mapping loci causing susceptibility to anal atresia in pigs, using a resource pedigree. J Pediatr Surg 36, 1370-1374.
[6]	Huang, Y., Wang, K.K., 2001. The calpain family and human disease. Trends Mol Med 7, 355-362.
[7]	Kramerova, I., Beckmann, J.S., Spencer, M.J., 2007. Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A). Biochim Biophys Acta 2, 128-144.
[8]	Kubota, Y., Shimotake, T., Yanagihara, J., Iwai, N., 1998. Development of anorectal malformations using etretinate. J Pediatr Surg 33, 127-129.
[9]	Mo, R., Kim, J.H., Zhang, J., Chiang, C., Hui, C.C., Kim, P.C., 2001. Anorectal malformations caused by defects in sonic hedgehog signaling. Am J Pathol 159, 765-774.
[10]	Moretti, D., Del Bello, B., Cosci, E., Biagioli, M., Miracco, C., Maellaro, E., 2009. Novel variants of muscle calpain 3 identified in human melanoma cells: cisplatin-induced changes in vitro and differential expression in melanocytic lesions. Carcinogenesis 30, 960-967.
[11]	Motoyama, J., Liu, J., Mo, R., Ding, Q., Post, M., Hui, C.C., 1998. Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus. Nat Genet 20, 54-57.
[12]	Qi, B.Q., Beasley, S.W., Williams, A.K., Fizelle, F., 2000. Apoptosis during regression of the tailgut and septation of the cloaca. J Pediatr Surg 35, 1556-1561.
[13]	Robinson, J.T., Thorvaldsdóttir, H., Winckler, W., Guttman, M., Lander, E.S., Getz, G., Mesirov, J.P., 2011. Integrative genomics viewer. Nat. Biotechnol. 29, 24–26.
[14]	Sasaki, Y., Iwai, N., Tsuda, T., Kimura, O., 2004. Sonic hedgehog and bone morphogenetic protein 4 expressions in the hindgut region of murine embryos with anorectal malformations. J Pediatr Surg 39, 170-173.
[15]	Scheet, P., Stephens, M., 2006. A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase. Am. J. Hum. Genet. 78, 629–644.
[16]	Squier, M.K., Miller, A.C., Malkinson, A.M., Cohen, J.J., 1994. Calpain activation in apoptosis. J Cell Physiol 159, 229-237.
[17]	Stockholm, D., Herasse, M., Marchand, S., Praud, C., Roudaut, C., Richard, I., Sebille, A., Beckmann, J.S., 2001. Calpain 3 mRNA expression in mice after denervation and during muscle regeneration. Am J Physiol Cell Physiol 280.
[18]	Sukegawa, A., Narita, T., Kameda, T., Saitoh, K., Nohno, T., Iba, H., Yasugi, S., Fukuda, K., 2000. The concentric structure of the developing gut is regulated by Sonic hedgehog derived from endodermal epithelium. Development 127, 1971-1980.
[19]	Thaller, G., Dempfle, L., Hoeschele, I., 1996. Investigation of the inheritance of birth defects in swine by complex segregation analysis. J. Anim. Breed. Genet. 113, 77-92.
[20]	Wijers, C.H., van Rooij, I.A., Marcelis, C.L., Brunner, H.G., de Blaauw, I., Roeleveld, N., 2014. Genetic and nongenetic etiology of nonsyndromic anorectal malformations: a systematic review. Birth Defects Res C Embryo Today 102, 382-400.
[21]	Wood, R.J., Levitt, M.A., 2018. Anorectal Malformations. Clin Colon Rectal Surg 31, 61-70.
[22]	Yalvac, M.E., Amornvit, J., Braganza, C., Chen, L., Hussain, S.A., Shontz, K.M., Montgomery, C.L., Flanigan, K.M., Lewis, S., Sahenk, Z., 2017. Impaired regeneration in calpain-3 null muscle is associated with perturbations in mTORC1 signaling and defective mitochondrial biogenesis. Skelet Muscle 7, 017-0146.