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Molecular genetic characterization of Robertsonian translocations in cattle
Author(s) -
Joerg H.,
Garner D.,
Rieder S.,
Suwattana D.,
Stranzinger G.
Publication year - 2001
Publication title -
journal of animal breeding and genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.689
H-Index - 51
eISSN - 1439-0388
pISSN - 0931-2668
DOI - 10.1046/j.1439-0388.2001.00303.x
Subject(s) - centromere , dicentric chromosome , robertsonian translocation , biology , genetics , chromosomal translocation , chromosome , satellite dna , karyotype , gene
The chromosome fusion of acrocentric chromosomes, known as Robertsonian translocations, are the most common chromosome rearrangement in Bovidae. Cytogenetic studies revealed differences between the centromeres of Robertsonian translocations: the rob(1; 29) is called monocentric, whereas rob(14; 20) is a dicentric chromosome. To analyse the type of fusion, satellite sequences were hybridised to metaphase chromosomes of carriers of rob(1; 29) from different breeds and rob(14; 20) from the Simmental breed. A repeat element of the bovine 1.715 satellite was located in the centromeric regions of all 29 bovine acrocentric chromosomes. No signals were observed on either the X‐,Y‐ or the rob(1; 29) chromosomes. In contrast, all rob(14; 20) chromosomes gave a distinct hybridisation signal. Microsatellite markers in the linkage group, originating from the fusion, revealed a characteristic allele combination for rob(1; 29) in all carriers and were able to confirm the screening of metaphases of 220 daughters of a heterozygote carrier of the rob(1; 29). The results indicate that rob(1; 29) lost parts of both centromeres and that the 1.715 satellite DNA is not necessary for the functioning of the centromere. Furthermore, rob(1; 29) appears to derive from the same mutation and is transmitted according to Mendelian law.