Cytogenetic and molecular analysis of chromosome instability in cattle with reproductive problems
Barbara Danielak-Czech
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 LublinBarbara Rejduch
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-KrakówAbstrakt
The cytogenetic and molecular analysis of cattle chromosome instability revealed excessive fragility of chromosome X in q11, q24, q31 and p13 regions in cows with reproductive
problems. The highest frequency of structural defects was found in BTAXp13 region containing FRM1 gene locus with unstable trinucleotide CGG repeats which were mapped by in situ PCR
method. The results obtained suggest that chromosome X structural instability may be a cause of defective expression of genes related with fertility and it leads to a decrease of reproductive efficiency. The present outcomes can be used in further studies on the cytogenetic and molecular substructure of chromosome instability phenomenon and their phenotypic effects in cattle.
Słowa kluczowe:
cattle, fertility, chromosome instability, FRM1 gene, trinucleotide tandem repeatsBibliografia
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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. 17th European Colloquium on Animal Cytogenetics and Gene Mapping, Lizbona, 18-21 June
2006. Book of Abstracts, 28.
Danielak-Czech B., Kaczor U., Sharan M., 2010. Cytomolecular analysis of chromosome X fragility in subfertile sheep. Ukrainian Academy of Agrarian Sciences. The 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.
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.
Hagerman R.J. 2006. Lessons from fragile X regarding neurobiology, autism, and neurodegeneration. J. Dev. Behav. Pediatr. 27, 63–74.
Kaczor U., Danielak-Czech B., Sharan M. 2009. Comparative mapping of the CGG tandem repeats of the human FRM1 gene in farm animals. Ukrainian Academy of Agrarian Sciences.
The Anim. Biol. 11, 242–246.
Llambí S., Guevara K., Rincón G., Nunez R., Arruga M.V., Postiglioni A., 1999. Aphidicolininduced fragile sites in Bos Taurus lymphocyte cultures (a preliminary study). Hung. J. Anim.
Prod. 48, 117–120.
Llambí S., Postiglioni A., 1997. Frequences and cytomorphological manifestation of sexual Xchromosome fragility (FRA Xq3.1) in Holstein-Friesian cattle. Archiv. Zootec. 45, 203–208.
Nowacka J., Urbaniak K., Antosik P., Jaśkowski J.M., Frąckowiak H., Świtoński M., 2007. Polymelia associated with frequent chromosome breaks in a heifer. Vet. Record. 161, 276–277.
Riggs P.K., Rønne M., 2009. Fragile sites in domestic animals: molecular insights and challenges. Cytogenet. Genome Res. 126, 97–109.
Rincón G., Llambí S., Postiglioni A., 1997. Expression of X chromosome fragility in Holstein-Friesian cattle: a preliminary study. Genet. Sel. Evol. 29, 295–401.
Rodriguez V., Llambí S., Postiglioni A., Guevara K., Rincón G., Fernandez G., Mernies B., Arruga M.V., 2002. Localisation of aphidicolin-induced break points in Holstein-Friesian cattle
(Bos taurus) using RBG-banding. Genet. Sel. Evol. 34, 649–656.
Słota E., Danielak-Czech B., 2002. Unstable chromosome regions in subfertile farm animals. Chromosome Res. 10, 1.
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.
Szczerbal I., Stefaniak T., Dubiel A., Siembieda J., Niżański W., Świtoński M., 2006. Chromosome instability in calf with amelia of thoracic limbs. Vet. Pathol. 43, 789–792.
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.
Uchida I.A., Freeman V., Basrur P., 1986. The fragile X in cattle. Am. J. Med. Genet. 23, 557–562.
Usdin K., 2008. The biological effects of simple tandem repeats: Lessons from the repeat expansion diseases. Genome Res. 18, 1011–1019.
35, 157–158.
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. 17th European Colloquium on Animal Cytogenetics and Gene Mapping, Lizbona, 18-21 June
2006. Book of Abstracts, 28.
Danielak-Czech B., Kaczor U., Sharan M., 2010. Cytomolecular analysis of chromosome X fragility in subfertile sheep. Ukrainian Academy of Agrarian Sciences. The 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.
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.
Hagerman R.J. 2006. Lessons from fragile X regarding neurobiology, autism, and neurodegeneration. J. Dev. Behav. Pediatr. 27, 63–74.
Kaczor U., Danielak-Czech B., Sharan M. 2009. Comparative mapping of the CGG tandem repeats of the human FRM1 gene in farm animals. Ukrainian Academy of Agrarian Sciences.
The Anim. Biol. 11, 242–246.
Llambí S., Guevara K., Rincón G., Nunez R., Arruga M.V., Postiglioni A., 1999. Aphidicolininduced fragile sites in Bos Taurus lymphocyte cultures (a preliminary study). Hung. J. Anim.
Prod. 48, 117–120.
Llambí S., Postiglioni A., 1997. Frequences and cytomorphological manifestation of sexual Xchromosome fragility (FRA Xq3.1) in Holstein-Friesian cattle. Archiv. Zootec. 45, 203–208.
Nowacka J., Urbaniak K., Antosik P., Jaśkowski J.M., Frąckowiak H., Świtoński M., 2007. Polymelia associated with frequent chromosome breaks in a heifer. Vet. Record. 161, 276–277.
Riggs P.K., Rønne M., 2009. Fragile sites in domestic animals: molecular insights and challenges. Cytogenet. Genome Res. 126, 97–109.
Rincón G., Llambí S., Postiglioni A., 1997. Expression of X chromosome fragility in Holstein-Friesian cattle: a preliminary study. Genet. Sel. Evol. 29, 295–401.
Rodriguez V., Llambí S., Postiglioni A., Guevara K., Rincón G., Fernandez G., Mernies B., Arruga M.V., 2002. Localisation of aphidicolin-induced break points in Holstein-Friesian cattle
(Bos taurus) using RBG-banding. Genet. Sel. Evol. 34, 649–656.
Słota E., Danielak-Czech B., 2002. Unstable chromosome regions in subfertile farm animals. Chromosome Res. 10, 1.
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.
Szczerbal I., Stefaniak T., Dubiel A., Siembieda J., Niżański W., Świtoński M., 2006. Chromosome instability in calf with amelia of thoracic limbs. Vet. Pathol. 43, 789–792.
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.
Uchida I.A., Freeman V., Basrur P., 1986. The fragile X in cattle. Am. J. Med. Genet. 23, 557–562.
Usdin K., 2008. The biological effects of simple tandem repeats: Lessons from the repeat expansion diseases. Genome Res. 18, 1011–1019.
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
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
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
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
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