Heterosome X premutation structural changes associated with fertility of Romanov sheep
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 LublinBarbara Rejduch
Departament of Animal Cytogenetics and Molecular Genetics, National Institute of Animal Production, Krakowska 1, 32-083 Balice/KrakówAbstrakt
Cytomolecular analysis of spontaneous and in vitro induced heterosome X permutation structural changes in Romanov sheep revealed a high level of Xq11, Xq22, Xq31 and Xq32/33
region instability in infertile ewes. The highest frequency of structural defects was found in OAR Xq22 region comprising unstable trinucleotide CGG repetitions of FRM1 gene regulatory sequence, identified by in situ PCR method. The results obtained suggest that chromosome X structural instability in sheep may be the cause of inappropriate expression of genes determining reproductive traits and increased rate of aneuploid germ cells related to prenatal and perinatal mortality.
Słowa kluczowe:
sheep, heterosome X instability, fragile X, FRM1 gene, trinucleotide tandem repetitionsBibliografia
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Asai M., Graphodatskaya D., Stranzinger G., Joerg H., 2004. Assignment of bovine trophinin (TRO) to the q arm of the X chromosome by fluorescence in situ hybridization. Anim. Genet.
35, 157–158.
Bryant P.E., 1997. DNA damage, repair and chromosomal damage. Int. J. Radiat. Biol. 71, 675–680.
Cribiu E.P., Durand V., Saget O., Chaffaux S., 1991. Cytogenetic investigation of Booroola Merinos d’Arles sheep (Preliminary reports). In: Major Genes in Reproduction in Sheep. 2nd International Workshop, Toulouse, 1990, 305–311.
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.
Di Berardino D., Iannuzzi L., Di Meo G.P., 1983. Localization of the BrdU-induced break sites in bovine chromosomes. Caryologia 36, 285–292.
Di Berardino D., Hayes H., Fries R., Long S.E., 1990. ISCNDA 1989. International System for Cytogenetic Nomenclature of Domestic Animals. Cytogenet. Cell Genet. 53, 65–79.
Di Berardino D., Di Meo G.P., Gallagher D.S., Hayes H., Iannuzzi L., 2001. ISCNDB 2000. International System for Chromosome Nomenclature of Domestic Bovids. Cytogenet. Cell Genet.
92, 283–299.
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.
Iannuzzi L., Di Meo G.P., 1995. Chromosomal evolution in bovids: a comparison of cattle, sheep and goat G- and R-banded chromosomes and cytogenetic divergences among cattle, goat and river buffalo sex chromosomes. Chromosome Res. 3, 291–299.
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.
Anim. Biol. 11, 242–246.
Llambi S., Postiglioni A., 1997. Frequences and cytomorphological manifestation of sexual X-chromosome fragility (FRA Xq3.1) in Holstein-Friesian cattle. Archiv. Zootec. 45, 203–208.
Matejka M., Cribiu E.P., Ricordeau G., Eychenne F., Durand V., Lajous D., Darre R., 1995. Evidence for rare heritable fragile site in Romanov sheep chromosome 8. Reprod. Domest.
Anim. 25, 220–226.
Prakash B., Olsaker I., Gustavsson I., Chowdhary B.P., 1997. FISH mapping of three bovine cosmids to cattle, goat, sheep and buffalo X chromosomes. Hereditas. 126, 115–119.
Riggs P.K., Rønne M., 2009. Fragile sites in domestic animals: molecular insights and challenges. Cytogenet. Genome Res. 126, 97–109.
Rincón G., Llambi S., Postiglioni A., 1997. Expression of X chromosome fragility in Holstein-Friesian cattle: a preliminary study. Genet. Sel. Evol. 29, 295–401.
Słota E., Bugno M., Kozubska-Sobocińska A., Danielak-Czech B., 2007a. Molekularne metody w analizach cytogenetycznych genomu zwierząt gospodarskich. Przegl. Hod. 6, 22–25.
Słota E., Bugno M., Rejduch B., Kozubska-Sobocińska A., Danielak-Czech B., 2007b. Sex chromosome aberrations in animals – evolution of diagnostic methods. Konf. Nauk. “Investigations
on animal genome and their utilization in science and modern breeding”. Balice, 19.06.2007. Mat. konf., 15–16.
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.
Słota E., Danielak-Czech B., 2002. Unstable chromosome regions in subfertile farm animals. Chromosome Res. 10, 1.
Sutherland G.R., Parslow M.I., Baker E., 1985. New classes of common fragile sites induced by 5-azacytidine and bromodeoxyuridine. Hum. Genet. 69, 233–237.
Sutherland G.R., Baker E., Richards R.I., 1996. Fragile sites. Encyclopedia Molec. Biol. Molec. Med. 2, 313–318.
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.
Asai M., Graphodatskaya D., Stranzinger G., Joerg H., 2004. Assignment of bovine trophinin (TRO) to the q arm of the X chromosome by fluorescence in situ hybridization. Anim. Genet.
35, 157–158.
Bryant P.E., 1997. DNA damage, repair and chromosomal damage. Int. J. Radiat. Biol. 71, 675–680.
Cribiu E.P., Durand V., Saget O., Chaffaux S., 1991. Cytogenetic investigation of Booroola Merinos d’Arles sheep (Preliminary reports). In: Major Genes in Reproduction in Sheep. 2nd International Workshop, Toulouse, 1990, 305–311.
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.
Di Berardino D., Iannuzzi L., Di Meo G.P., 1983. Localization of the BrdU-induced break sites in bovine chromosomes. Caryologia 36, 285–292.
Di Berardino D., Hayes H., Fries R., Long S.E., 1990. ISCNDA 1989. International System for Cytogenetic Nomenclature of Domestic Animals. Cytogenet. Cell Genet. 53, 65–79.
Di Berardino D., Di Meo G.P., Gallagher D.S., Hayes H., Iannuzzi L., 2001. ISCNDB 2000. International System for Chromosome Nomenclature of Domestic Bovids. Cytogenet. Cell Genet.
92, 283–299.
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.
Iannuzzi L., Di Meo G.P., 1995. Chromosomal evolution in bovids: a comparison of cattle, sheep and goat G- and R-banded chromosomes and cytogenetic divergences among cattle, goat and river buffalo sex chromosomes. Chromosome Res. 3, 291–299.
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.
Anim. Biol. 11, 242–246.
Llambi S., Postiglioni A., 1997. Frequences and cytomorphological manifestation of sexual X-chromosome fragility (FRA Xq3.1) in Holstein-Friesian cattle. Archiv. Zootec. 45, 203–208.
Matejka M., Cribiu E.P., Ricordeau G., Eychenne F., Durand V., Lajous D., Darre R., 1995. Evidence for rare heritable fragile site in Romanov sheep chromosome 8. Reprod. Domest.
Anim. 25, 220–226.
Prakash B., Olsaker I., Gustavsson I., Chowdhary B.P., 1997. FISH mapping of three bovine cosmids to cattle, goat, sheep and buffalo X chromosomes. Hereditas. 126, 115–119.
Riggs P.K., Rønne M., 2009. Fragile sites in domestic animals: molecular insights and challenges. Cytogenet. Genome Res. 126, 97–109.
Rincón G., Llambi S., Postiglioni A., 1997. Expression of X chromosome fragility in Holstein-Friesian cattle: a preliminary study. Genet. Sel. Evol. 29, 295–401.
Słota E., Bugno M., Kozubska-Sobocińska A., Danielak-Czech B., 2007a. Molekularne metody w analizach cytogenetycznych genomu zwierząt gospodarskich. Przegl. Hod. 6, 22–25.
Słota E., Bugno M., Rejduch B., Kozubska-Sobocińska A., Danielak-Czech B., 2007b. Sex chromosome aberrations in animals – evolution of diagnostic methods. Konf. Nauk. “Investigations
on animal genome and their utilization in science and modern breeding”. Balice, 19.06.2007. Mat. konf., 15–16.
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.
Słota E., Danielak-Czech B., 2002. Unstable chromosome regions in subfertile farm animals. Chromosome Res. 10, 1.
Sutherland G.R., Parslow M.I., Baker E., 1985. New classes of common fragile sites induced by 5-azacytidine and bromodeoxyuridine. Hum. Genet. 69, 233–237.
Sutherland G.R., Baker E., Richards R.I., 1996. Fragile sites. Encyclopedia Molec. Biol. Molec. Med. 2, 313–318.
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
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
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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