Iannuzzi Alessandra, Iannuzzi Leopoldo, Parma Pietro
Institute for Animal Production System in Mediterranean Environment, National Research Council, 80055 Portici, Italy.
Department of Agricultural and Environmental Sciences, University of Milan, 20133 Milan, Italy.
Animals (Basel). 2023 Mar 6;13(5):944. doi: 10.3390/ani13050944.
The discovery of the Robertsonian translocation (rob) involving cattle chromosomes 1 and 29 and the demonstration of its deleterious effects on fertility focused the interest of many scientific groups on using chromosome banding techniques to reveal chromosome abnormalities and verify their effects on fertility in domestic animals. At the same time, comparative banding studies among various species of domestic or wild animals were found useful for delineating chromosome evolution among species. The advent of molecular cytogenetics, particularly the use of fluorescence in situ hybridization (FISH), has allowed a deeper investigation of the chromosomes of domestic animals through: (a) the physical mapping of specific DNA sequences on chromosome regions; (b) the use of specific chromosome markers for the identification of the chromosomes or chromosome regions involved in chromosome abnormalities, especially when poor banding patterns are produced; (c) better anchoring of radiation hybrid and genetic maps to specific chromosome regions; (d) better comparisons of related and unrelated species by comparative FISH mapping and/or Zoo-FISH techniques; (e) the study of meiotic segregation, especially by sperm-FISH, in some chromosome abnormalities; (f) better demonstration of conserved or lost DNA sequences in chromosome abnormalities; (g) the use of informatic and genomic reconstructions, in addition to CGH arrays, to predict conserved or lost chromosome regions in related species; and (h) the study of some chromosome abnormalities and genomic stability using PCR applications. This review summarizes the most important applications of molecular cytogenetics in domestic bovids, with an emphasis on FISH mapping applications.
涉及牛1号和29号染色体的罗伯逊易位(rob)的发现及其对生育力有害影响的证实,使许多科学团队对使用染色体显带技术来揭示家畜染色体异常并验证其对生育力的影响产生了兴趣。与此同时,人们发现对各种家养或野生动物进行比较显带研究有助于描绘物种间的染色体进化。分子细胞遗传学的出现,尤其是荧光原位杂交(FISH)的应用,使得通过以下方式对家畜染色体进行更深入的研究成为可能:(a)在染色体区域对特定DNA序列进行物理图谱绘制;(b)使用特定的染色体标记来识别涉及染色体异常的染色体或染色体区域,尤其是在产生不良显带模式时;(c)将辐射杂种图谱和遗传图谱更好地锚定到特定染色体区域;(d)通过比较FISH图谱和/或动物FISH技术对相关和不相关物种进行更好的比较;(e)在某些染色体异常中研究减数分裂分离,特别是通过精子FISH;(f)更好地证明染色体异常中保守或缺失的DNA序列;(g)除了比较基因组杂交阵列外,还利用信息学和基因组重建来预测相关物种中保守或缺失的染色体区域;以及(h)利用PCR应用研究一些染色体异常和基因组稳定性。本综述总结了分子细胞遗传学在家养家畜中的最重要应用,重点是FISH图谱绘制应用。