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Current IssueEditorial BoardOnline First Articles
Indian Journal of
Animal Research
Print ISSN: 0367-6722
Online ISSN: 0976-0555
NASS Rating
6.40
SJR
0.233
CiteScore
0.606

Chief Editor:
M. R. Saseendranath
Kerala Veterinary and Animal Science University, Mannuthy, Thrissur, INDIA
Frequency:Monthly
Indexing:
Science Citation Index Expanded, BIOSIS Preview, ISI Citation Index, Biological Abstracts, Scopus, ...

Full Research Article

Detection of Novel Genes on Recessive Heterozygous Alleles in Pig Breeding: A Review

Hong Thuan Tran, Nguyen Thuy Linh, Thong Minh Le, Thai Van Nam, Anh Phu Nam Bui

ABSTRACT

In this paper, we illustrated several examples of overdominance phenomenon in pigs, in which the selection in favor of lethal genes that generates production traits such as body weight, body condition score and milk yield. We searched the database and literatures on NCBI Databases, Google scholar, Google Web tools. Five novel candidates of Bardet-Biedl Syndrome 9 (BBS9) gene, Transcriptional Adapter-Ada2 (TADA2) gene, RNA Polymerase I subunit B (POLR1B), Ribosome biogenesis homolog (URB1), Polynucleotide kinase 3’-phosphatase (PNKP) are reported to positively affect food intake, cell proliferation. However, embryonic and developmental lethality are displayed in the homozygous recessive individuals. The objective of this review is to show the relationship between genotypes, phenotypes and functions of these novel genes which could benefit pig breeding industry.

REFERENCES


  1. Alkhouri, N., Kaplan, B., Kay, M., Shealy, A. Crowe,, C., Bauhuber, S. and Zenker, M. (2008). Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing. World J. Gastroenterol. 14: 6863-6.

  2. An, J.Y., Seo, J.W., Tasaki, T., Lee, M.J., Varshavsky, A. and Kwon, Y.T. (2006). Impaired Neurogenesis and Cardiovascular Development in Mice Lacking the E3 Ubiquitin Ligases UBR1 and UBR2 of the N-end rule pathway. Proc. Natl. Acad. Sci. USA. 103: 6212-7.

  3. Aziz, N.M., Guedj, F., Pennings, J.L.A., Olmos-Serrano, J.L., Siegel, A., Haydar, T.F. and Bianchi, D.W. (2018). Lifespan analysis of brain development, gene expression and behavioral phenotypes in the Ts1Cje, Ts65Dn and Dp(16)1/Yey mouse models of Down syndrome. Dis Model Mech. 11.

  4. Barlev, N.A., Candau, R., Wang, L., Darpino, P., Silverman, N. and  Berger, S.L. (1995). ‘Characterization of physical interactions of the putative transcriptional adaptor, ADA2, with acidic activation domains and TATA-binding protein. Journal of Biological Chemistry. 270: 19337-44.

  5. Ben Braiek, M., Fabre, S., Hoze, C., Astruc, J.M. and Moreno Romieux., C. (2021). Identification of homozygous haplotypes carrying putative recessive lethal mutations that compromise fertility traits in French Lacaune dairy sheep. Genet. Sel. Evol. 53: 41.

  6. Berger, S.L., Pina, B., Silverman, N., Marcus, G.A., Agapite, J., Regier, J.L., Triezenberg, S.J. and Guarente, L. (1992). Genetic isolation of ADA2: A potential transcriptional adaptor required for function of certain acidic activation domains. Cell. 70: 251-65.

  7. Bras, J., Alonso, I., Barbot, C., Costa, M.M., Darwent, L., Orme, T., Sequeiros, J., Hardy, J., Coutinho, P. and Guerreiro, R. (2015). Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. Am J. Hum Genet. 96: 474-9.

  8. Chen, H., Li, Z.H., Haruna, K., Li, Z.Z., Li, Z.Z., Semba, K., Araki, M., Yamamura, K.I. and Araki, K. (2008). Early pre- implantation lethality in mice carrying truncated mutation in the RNA polymerase 1-2 gene. Biochemical and Biophysical Research Communications. 365: 636-42.

  9. Ciurciu, A., Komonyi, O., Pankotai, T. and Boros, I.M. (2006). The Drosophila histone acetyltransferase Gcn5 and transcriptional adaptor Ada2a are involved in nucleosomal histone H4 acetylation. Molecular and Cellular Biology. 26: 9413-23.

  10. Civelek, Z., Urganci, N., Usta, M. and Celik, M. (2018). A rare cause of pancreatic insufficiency; Johanson Blizzard Syndrome. J. Pak. Med. Assoc. 68: 801-03.

  11. Derks, M.F.L., Gjuvsland, A.B., Bosse, M., Lopes, M.S., van Son, M., Harlizius, B., Tan, B.F., Hamland, H., Grindflek, E., Groenen, M.A.M. and Megens, H.J. (2019). Loss of function mutations in essential genes cause embryonic lethality in pigs. PLoS Genet. 15: e1008055.

  12. Derks, M.F.L., Lopes, M.S., Bosse, M., Madsen, O., Dibbits, B., Harlizius, B., Groenen, M.A.M. and Megens, H.J. (2018). Balancing selection on a recessive lethal deletion with pleiotropic effects on two neighboring genes in the porcine genome. PLoS Genet. 14: e1007661.

  13. Digilio, M.C.,Dallapiccola, B.  and Marino, B. (2006). Atrioventricular canal defect in Bardet-Biedl syndrome: clinical evidence supporting the link between atrioventricular canal defect and polydactyly syndromes with ciliary dysfunction536. Genet. Med. 8: 536-8.

  14. Dumitrache, L.C. and McKinnon, P.J. (2017). Polynucleotide kinasephosphatase (PNKP) mutations and neurologic disease. Mech Ageing Dev. 161: 121-29.

  15. Engel, C., Gubbey, T., Neyer, S., Sainsbury, S., Oberthuer, C., Baejen, C., Bernecky, C. and Cramer, P. (2017). Structural basis of RNA polymerase I transcription initiation. Cell. 169: 120-31 e22.

  16. Godbole, K., Maja, S., Leena, H. and. Martin, Z (2013). Johansonblizzard syndrome. Indian Pediatr. 50: 510-2.

  17. He, J., Yang, Y., Zhang, J., Chen, J., Wei, X., He, J. and Luo, L. (2017). Ribosome biogenesis protein Urb1 acts downstream of mTOR complex 1 to modulate digestive organ development in zebrafish. J. Genet Genomics. 44: 567-76.

  18. Hernandez-Hernandez, V., Pravincumar, P., Diaz-Font, A., MaySimera, H., Jenkins, D., Knight, M. and Beales, P.L. (2013). Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization. Hum. Mol. Genet. 22: 3858-68.

  19. Hidalgo, J., Tsuruta, S., Lourenco, D., Masuda, Y., Huang, Y., Gray, K.A. and Misztal, I. (2020). Changes in genetic parameters for fitness and growth traits in pigs under genomic selection. J. Anim Sci. 98.

  20. Hwang, C.S., Sukalo, M., Batygin, O., Addor, M.C., Brunner, H., Aytes, A.P., Mayerle, J., Song, H.K., Varshavsky, A. and Zenker, M. (2011). Ubiquitin ligases of the N-end rule pathway: Assessment of mutations in UBR1 that cause the Johanson- Blizzard syndrome. PLoS One. 6: e24925.

  21. Kadri, N.K., Sahana, G., Charlier, C., Iso-Touru, T., Guldbrandtsen, B., Karim, L., Nielsen, U.S., Panitz, F., Aamand, G.P., Schulman, N., Georges, M., Vilkki, J., Lund, M.S. and Druet, T. (2014). A 660-Kb deletion with antagonistic effects on fertility and milk production segregates at high frequency in nordic red cattle: Additional evidence for the common occurrence of balancing selection in livestock. Plos Genetics. 10(1): e1004049.

  22. Knockenhauer, K.E. and Schwartz, T.U. (2015). Structural characterization of Bardet-Biedl Syndrome 9 Protein (BBS9). Journal of Biological Chemistry. 290: 19569-83.

  23. Kulaga, H.M., Leitch, C.C., Eichers, E.R., Badano, J.L., Lesemann,

  24. A., Hoskins, B.E., Lupski, J.R., Beales, P.L., Reed, R.R. and Katsanis, N. (2004). Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nature Genetics. 36: 994-98.

  25. Liu, S., Wang, Z., Jiang, J., Luo, X., Hong, Q., Zhang, Y., OuYang, H., Wei, S., Liang, J., Chen, N. and Zeng, W. (2020). Severe forms of Johanson-Blizzard syndrome caused by two novel compound heterozygous variants in UBR1: Clinical manifestations, imaging findings and molecular genetics. Pancreatology. 20: 562-68.

  26. Mnaimneh, S., Davierwala, A.P., Haynes, J., Moffat, J., Peng, W.T., Zhang, W., Yang, X., et al. (2004). Exploration of essential gene functions via titratable promoter alleles. Cell. 118: 31-44.

  27. Muratoglu, S., Georgieva, S., Papai, G., Scheer, E., Enunlu, I., Komonyi, O., Cserpan, I., Lebedeva, L., Nabirochkina, E., Udvardy, A., Tora, L. and Boros, I. (2003). Two different Drosophila ADA2 homologues are present in distinct GCN5 histone acetyltransferase-containing complexes. Molecular and Cellular Biology. 23: 306-21.

  28. Neuser, S., Krey, I., Schwan, A., Abou Jamra, R., Bartolomaeus, T., Doring, J., Syrbe, S., et al. (2021). Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain. Eur J. Hum Genet. 30: 101-110.

  29. Nishimura, D.Y., Swiderski, R.E., Searby, C.C., Berg, E.M., Ferguson, A.L., Hennekam, R., Merin, S., Weleber, R.G., Biesecker, L.G., Stone, E.M. and Sheffield, V.C (2005). Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Am. J. Hum. Genet. 77: 1021-33.

  30. Ohnuki, S. and Ohya, Y. (2018). High-dimensional single-cell phenotyping reveals extensive haploinsufficiency. PLoS Biol. 16: e2005130.

  31. Pankotai, T., Komonyi, O., Bodai, L., Ujfaludi, Z., Muratoglu, S., Ciurciu, A., Tora, L., Szabad, J. and Boros, I. (2005). The homologous Drosophila transcriptional adaptors ADA2a and ADA2b are both required for normal development but have different functions. Molecular and Cellular Biology. 25: 8215-27.

  32. Poulios, S., Dadarou, D., Gavriilidis, M., Mougiou, N., Kargios, N., Maliori, V., Hark, A.T., Doonan, J.H. and Vlachonasios, K.E. (2021). The transcriptional Adaptor Protein ADA3a Modulates Flowering of Arabidopsis thaliana. Cells. 10.

  33. Poulton, C., Oegema, R., Heijsman, D., Hoogeboom, J., Schot, R., Stroink, H., Willemsen, M.A., Verheijen, F.W., van de Spek, P., Kremer, A. and Mancini, G.M. (2013). Progressive cerebellar atrophy and polyneuropathy: Expanding the spectrum of PNKP mutations. Neurogenetics. 14: 43-51.

  34. Seither, P. and Grummt, I. (1996). Molecular cloning of RPA2, the gene encoding the second largest subunit of mouse RNA polymerase I. Genomics. 37: 135-9.

  35. Shen, J., Gilmore, E.C., Marshall, C.A., Haddadin, M., Reynolds, J.J., Eyaid, W., Bodell, A., et al. (2010). Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nature Genetics. 42: 245-9.

  36. Shimada, M., Dumitrache, L.C., Russell, H.R. and McKinnon, P.J. (2015). Polynucleotide kinase-phosphatase enables neurogenesis via multiple DNA repair pathways to maintain genome stability. EMBO J. 34: 2465-80.

  37. Shin, W., Alpaugh, W., Hallihan, L.J., Sinha, S., Crowther, E., Martin, G.R., Scheidl-Yee, T., Yang, X.Y. et al. (2021). PNKP is required for maintaining the integrity of progenitor cell populations in adult mice. Life Science Alliance. 4.

  38. Sironen, A., Uimari, P., Iso-Touru, T. and Vilkki, J. (2012). L1 insertion within SPEF2 gene is associated with increased litter size in the Finnish Yorkshire population. Journal of Animal Breeding and Genetics. 129: 92-97.

  39. Stockinger, E.J., Mao, Y.P., Regier, M.K., Triezenberg, S.J. and Thomashow., M.F. (2001). Transcriptional adaptor and histone acetyltransferase proteins in Arabidopsis and their interactions with CBF1, a transcriptional activator involved in cold-regulated gene expression. Nucleic Acids Research. 29: 1524-33.

  40. Suarez-Gonzalez, J., Seidel, V., Andres-Zayas, C., Izquierdo, E. and Buno, I. (2021). Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations. BMC Med Genomics. 14: 91.

  41. Torreira, E., Louro, J.A., Pazos, I., Gonzalez-Polo, N., Gil-Carton, D., Duran, A.G., Tosi, S., Gallego, O., Calvo, O. and Fernandez Tornero, C. (2017). The dynamic assembly of distinct RNA polymerase I complexes modulates rDNA transcription. Elife. 6.

  42. Tsukada, K., Matsumoto, Y. and Shimada, M. (2020). Linker region is required for efficient nuclear localization of polynucleotide kinase phosphatase. PLoS One. 15.

  43. Veleri, S., Bishop, K., Dalle Nogare, D.E., English, M.A., Foskett, T.J., Chitnis, A., Sood, R., Liu, P. and Swaroop, A. (2012). Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects. PLoS One. 7: e34389.

  44. Wang, T., Li, L.Y., Chen, Y.F., Fu, S.W., Wu, Z.W., Du, B.B., Yang, X.F., Zhang, W.S., Hao, X.Y. and Guo, T.K. (2021). Ribosome assembly factor URB1 contributes to colorectal cancer proliferation through transcriptional activation of ATF4. Cancer Science. 112: 101-16.

  45. Weinfeld, M., Mani, R.S., Abdou, I., Aceytuno, R.D. and Glover, J.N. (2011). Tidying up loose ends: The role of polynucleotide kinase/phosphatase in DNA strand break repair. Trends Biochem Sci. 36: 262-71.

  46. Yang, F., Liu, H.T., Zhao, J.J., Ma, X.J. and Qi, W.B. (2020). POLR1B is upregulated and promotes cell proliferation in non-small cell lung cancer. Oncology Letters. 19: 671-80.

  47. Zhang, Q., Seo, S., Bugge, K., Stone, E.M. and Sheffield, V.C. (2012). BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes. Hum Mol Genet. 21: 1945-53.
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