Cytomolecular evaluation of structural chromosome instability in sows with decreased reproductive efficiency
BARBARA DANIELAK-CZECH
Departament of Animal Cytogenetics and Molecular Genetics, National Institute of Animal Production, Krakowska 1, 32-083 Balice/KrakówANNA KOZUBSKA-SOBOCIŃSKA
Departament of Animal Cytogenetics and Molecular Genetics, National Institute of Animal Production, Krakowska 1, 32-083 Balice/KrakówMAREK BABICZ
Department of Pig Breeding and Production Technology, University of Life Sciences in Lublin, Akademicka 13, 20-950 LublinKATARZYNA KRUCZEK
Departament of Animal Cytogenetics and Molecular Genetics, National Institute of Animal Production, Krakowska 1, 32-083 Balice/KrakówBARBARA REJDUCH
Departament of Animal Cytogenetics and Molecular Genetics, National Institute of Animal Production, Krakowska 1, 32-083 Balice/KrakówAbstract
Cytomolecular evaluation of pig structural chromosome instability revealed excessive fragility of Xq21, Xq22 and Xq26 chromosome regions in sows with decreased reproductive efficiency. The highest frequency of structural defects was found in SSCXq26 genome region containing FRM1 gene locus with unstable trinucleotide CGG repeats which localization was assigned by in situ PCR method. The results obtained suggest that heterosome X instability may be a cause of defective expression of genes related to fertility, leading to a decrease of reproductive efficiency of sows. The presented outcomes can be used in further studies on cytomolecular background of chromosome instability phenomenon and their phenotypic effects in pigs.
Keywords:
pigs, sows fertility, structural chromosome instability, FRM1 gene, trinucleotide tandem repeatsReferences
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Danielak-Czech B., Słota E., 2008. Karyotype control system of AI boars in Poland: the current survey. Ann. Anim. Sci. 3, 255-262.
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Madsen L.B., Thomsen B., Solvsten C.A.E., Bendixen C., Fredholm M., Jorgensen A.L., Nielsen A.L., 2007. Identification of the porcine homologous of human disease causing trinucleotide repeat sequences. Neurogenetics 8, 207–218.
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Słota E., Danielak-Czech B., 2002. Unstable chromosome regions in subfertile farm animals. Chromosome Res. 10, 1.
Słota E., Danielak-Czech B., 2010. Zastosowanie metod cytogenetyki molekularnej w diagnostyce i profilaktyce wad genetycznych u świń. In: Zastosowanie osiągnięć naukowych z zakresu genetyki i biotechnologii rozrodu w nowoczesnej produkcji trzody chlewnej. Różycki M., Rocz. Nauk. Zoot., (Monografie i Rozprawy) 44, 9–20.
Słota E., Danielak-Czech B., Pietraszewska J., Kozubska-Sobocińska A., 2000. Preliminary identification of the fragile X in two crossbred cows. Vet. Med.-Czech 45, 308–310.
Troyer D.L., Goad D.W., Xie H., Rohrer G.A., Alexander L.J., Beattie C.W., 1994. Use of direct in situ single-copy (DISC) PCR to physically map five porcine microsatellites. Cytogenet. Cell Genet. 67, 199–204.
Wittenberger M.D., Hagerman R.J., Sherman S.L., McConckie-Rosell A., Welt C.K., Rebar R.W., Corrigan E.C., Simpson J.L., Nelson L.M., 2007. The FRM1 premutation and reproduction. Fertil. Steril. 87, 456–465.
Usdin K., 2008. The biological effects of simple tandem repeats: Lessons from the repeat expansion diseases. Genome Res. 18, 1011–1019.
Yang M.Y., Long S.E., 1993. Folate sensitive common fragile sites in chromosomes of the domestic pig (Sus scrofa). Res. Vet. Sci. 55, 231–235.
A.C., Fegan C.D., Caporaso N., Cotter F.E., 2006. Trinucleotide repeat dynamic mutation identifying susceptibility in familial and sporadic chronic lymphocytic leukaemia. Br. J. Haematol. 136, 73–79.
Basrur P.K., Stranzinger G., 2008. Veterinary cytogenetics: past and perspective. Cytogenet. Genome Res. 120, 11–25.
Danielak-Czech B., Słota E., 2002. Unstable chromosomal regions in subfertile animals. Ann. Anim. Sci. 2, 4–14.
Danielak-Czech B., Słota E., 2004. Mutagen-induced chromosome instability in farm animals. J. Anim. Feed Sci. 13, 257–267.
Danielak-Czech B., Słota E., 2006. Cytogenetic localization of FRM1 gene in farm animals. Proc. 17th Europ. Colloq. Anim. Cytogenet. Gene Mapping, 28.
Danielak-Czech B., Słota E., 2008. Karyotype control system of AI boars in Poland: the current survey. Ann. Anim. Sci. 3, 255-262.
Danielak-Czech B., Babicz M., Kozubska-Sobocińska A., Rejduch B., Kruczek K., 2012a. Cytogenetic identification of locus-specific unstable trinucleotide repeats in selected Bovidae species and Sus scrofa domestica. Annales UMCS, Sec. EE, Zootechnica 30 (3), 24–29.
Danielak-Czech B., Babicz M., Rejduch B., Kozubska-Sobocińska A., 2012b. Cytogenetic and molecular analysis of chromosome instability in cattle with reproductive problems. Annales UMCS, Sec. EE, Zootechnica 30 (4), 18–25.
Danielak-Czech B., Kaczor U., Sharan M., 2010. Cytomolecular analysis of chromosome X fragility in subfertile sheep. Anim. Biol. 12, 234-239.
Danielak-Czech B., Kozubska-Sobocińska A., Babicz M., Rejduch B., 2011. Heterosome X premutation structural changes associated with fertility of Romanov sheep. Annales UMCS, Sec. EE, Zootechnica 29 (3), 28–34.
Danielak-Czech B., Kozubska-Sobocińska A., Słota E., Rejduch B., Okularczyk S., 1996. Decrease in pig fertility as a result of reciprocal translocations and associated economic effects on the basis of rcp(7;13)(q13;q46). J. Appl. Genet. 36, 373–384.
Danielak-Czech B., Rejduch B., Kozubska-Sobocińska A., 2013. Identification of telomeric sequences in pigs with rearranged karyotype using PRINS technique. Ann. Anim. Sci. 3, 495–502.
Danielak-Czech B., Słota E., Świtoński M., 1994. Identification of the first reciprocal translocations in the pig population bred in Poland. Proc.11th Eur. Colloq. Cytogenet. Domest. Anim., 20–24.
Danielak-Czech B., Świtoński M., Słota E., 1997. First identification of reciprocal translocations in Polish pigs. J. Anim. Breed. Genet. 114, 69–78.
Deelen W., Bakker., Halley D.J.J., Oostra B.A., 1994. Conservation of CGG region in FRM1 gene in mammals. Am. J. Med. Genet. 51, 513–516.
Fu Y-H, Kuhl D.P.A., Pizzutti A., Pieretti M., Richards S., Verkerk A.J.M.H., Warren S.T., Oostra B.A., Nelson D.L., Caskey C.T., 1991. Fragile X site: A polymorphic and highly mutable CGG repeat in the FMR-1 gene. Cell 67, 1047–1058.
Gustavsson I., 1990. Chromosomes of the pigs. Adv. Vet. Sci. Comp. Med. 34, 73-107.
Hagerman R.J., 2006. Lessons from fragile X regarding neurobiology, autism, and neurodegeneration. J. Dev. Behav. Pediatr. 27, 63–74.
Jordan D.K., Burns T.C., Divelbiss J.E., Woolson R.F., Patil S.R., 1990. Variability in expression of common fragile sites: in search of a new criterion. Hum. Genet. 85, 462–466.
Kaczor U., Danielak-Czech B., Sharan M., 2009. Comparative mapping of the CGG tandem repeats of the human FRM1 gene in farm animals. Anim. Biol. 11, 242–246.
Long S., 1991. Reciprocal translocations in the pig (Sus scrofa): a review. Vet. Rec. 128, 275–278.
Madsen L.B., Thomsen B., Solvsten C.A.E., Bendixen C., Fredholm M., Jorgensen A.L., Nielsen A.L., 2007. Identification of the porcine homologous of human disease causing trinucleotide repeat sequences. Neurogenetics 8, 207–218.
Pearson C.E., Edamura K.N., Cleary J.D., 2005. Repeat instability: mechanisms of dynamic mutations. Nat. Rev. Genet. 6, 729–742.
Riggs P.K., Rønne M., 2009. Fragile sites in domestic animals: molecular insights and challenges. Cytogenet. Genome Res. 126, 97–109.
Riggs P.K., Kuczek T., Chrisman C.L., Bidwell C.A., 1993. Analysis of aphidicolin-induced fragility in the domestic pig (Sus scrofa). Cytogenet. Cell Genet. 62, 110–116.
Rønne M., 1995. Localization of fragile sites in the karyotype of Sus scrofa domestica: present status. Hereditas. 122, 153–162.
Słota E., Danielak-Czech B., 2002. Unstable chromosome regions in subfertile farm animals. Chromosome Res. 10, 1.
Słota E., Danielak-Czech B., 2010. Zastosowanie metod cytogenetyki molekularnej w diagnostyce i profilaktyce wad genetycznych u świń. In: Zastosowanie osiągnięć naukowych z zakresu genetyki i biotechnologii rozrodu w nowoczesnej produkcji trzody chlewnej. Różycki M., Rocz. Nauk. Zoot., (Monografie i Rozprawy) 44, 9–20.
Słota E., Danielak-Czech B., Pietraszewska J., Kozubska-Sobocińska A., 2000. Preliminary identification of the fragile X in two crossbred cows. Vet. Med.-Czech 45, 308–310.
Troyer D.L., Goad D.W., Xie H., Rohrer G.A., Alexander L.J., Beattie C.W., 1994. Use of direct in situ single-copy (DISC) PCR to physically map five porcine microsatellites. Cytogenet. Cell Genet. 67, 199–204.
Wittenberger M.D., Hagerman R.J., Sherman S.L., McConckie-Rosell A., Welt C.K., Rebar R.W., Corrigan E.C., Simpson J.L., Nelson L.M., 2007. The FRM1 premutation and reproduction. Fertil. Steril. 87, 456–465.
Usdin K., 2008. The biological effects of simple tandem repeats: Lessons from the repeat expansion diseases. Genome Res. 18, 1011–1019.
Yang M.Y., Long S.E., 1993. Folate sensitive common fragile sites in chromosomes of the domestic pig (Sus scrofa). Res. Vet. Sci. 55, 231–235.
BARBARA DANIELAK-CZECH
Departament of Animal Cytogenetics and Molecular Genetics, National Institute of Animal Production, Krakowska 1, 32-083 Balice/Kraków
Departament of Animal Cytogenetics and Molecular Genetics, National Institute of Animal Production, Krakowska 1, 32-083 Balice/Kraków
ANNA KOZUBSKA-SOBOCIŃSKA
Departament of Animal Cytogenetics and Molecular Genetics, National Institute of Animal Production, Krakowska 1, 32-083 Balice/Kraków
Departament of Animal Cytogenetics and Molecular Genetics, National Institute of Animal Production, Krakowska 1, 32-083 Balice/Kraków
MAREK BABICZ
Department of Pig Breeding and Production Technology, University of Life Sciences in Lublin, Akademicka 13, 20-950 Lublin
Department of Pig Breeding and Production Technology, University of Life Sciences in Lublin, Akademicka 13, 20-950 Lublin
KATARZYNA KRUCZEK
Departament of Animal Cytogenetics and Molecular Genetics, National Institute of Animal Production, Krakowska 1, 32-083 Balice/Kraków
Departament of Animal Cytogenetics and Molecular Genetics, National Institute of Animal Production, Krakowska 1, 32-083 Balice/Kraków
BARBARA REJDUCH
Departament of Animal Cytogenetics and Molecular Genetics, National Institute of Animal Production, Krakowska 1, 32-083 Balice/Kraków
Departament of Animal Cytogenetics and Molecular Genetics, National Institute of Animal Production, Krakowska 1, 32-083 Balice/Kraków
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