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当前位置: 首页 > 文章 > 贵州矮马SHOX基因的鉴定及其多态性研究 中国畜牧杂志 2015,51 (23) 6-11
Position: Home > Articles > Identification and Polymorphism of Short Stature Homeobox-Containing Gene in Guizhou Pony Chinese Journal of Animal Science 2015,51 (23) 6-11

贵州矮马SHOX基因的鉴定及其多态性研究

作  者：
冉雪琴;赵星艳;岑永秀;徐倩;王嘉福;李升;阮涌
单  位：
贵州大学动物科学学院;贵州大学农业生物工程研究院
关键词：
贵州矮马;SHOX基因;多态性;体高;伊犁马
摘  要：
矮小同源盒基因(SHOX)突变是儿童身材矮小的重要原因。贵州矮马的体高和前膊长较小,但不清楚马基因组中是否有SHOX基因。本研究采用PCR和RT-PCR方法 ,从贵州矮马血液和心脏中克隆SHOX基因F1和F2片段;经测序研究贵州矮马SHOX基因的多态性。结果表明:从贵州矮马基因组中克隆到F1片段279 bp,从心脏总RNA逆转录得到F2片段216 bp,分别对应于人SHOX基因外显子2和外显子3区域;片段F2编码72个氨基酸,其中Ser16为磷酸化位点,且含有DNA结合结构域N端的45个氨基酸;片段F1对应于马参考基因组未定位的Scaffold 118中,推测马SHOX基因可能位于X染色体的短臂末端;从SHOX基因2个片段的序列中找到6个变异位点,但贵州矮马群体中各SNP位点的分布频率与伊犁马之间没有明显差异;矮马个体中存在SHOX基因的单核苷酸变异,可能参与骨的发育调节。本研究结果表明,马基因组中存在SHOX基因,且有转录活性,SHOX基因外显子2和3的序列保守,基因的变异可能参与个体的骨发育调节。
译  名：
Identification and Polymorphism of Short Stature Homeobox-Containing Gene in Guizhou Pony
作  者：
RAN Xue-qin;ZHAO Xing-yan;CEN Yong-xiu;XU Qian;WANG Jia-fu;LI Sheng;RUAN Yong;Faculty of Animal Science, Guizhou University;The Third Middle School;School of Agricultural Bioengineering of Guizhou Province;
关键词：
guizhou pony;;SHOX gene;;polymorphism;;body height;;Ili horse
摘  要：
Short stature homeobox-containing gene(SHOX) is important for skeletal growth and development in chil-dren. The stature in Guizhou pony is similar with the idiopathic short stature in human with a lower body height and forearm length without any other body disproportion. However, it is still uncertain whether SHOX gene exists in the genome of horse. Two partial fragments of SHOX gene were isolated from the genomic DNA and the c DNA of heart total RNA from Guizhou pony by PCR and RT-PCR methods, respectively. Taking Ili horse as control, the polymor-phisms of SHOX genes were further detected by sequencing methods in Guizhou pony. DNA fragment 1 was cloned from the blood genomic DNA of Guizhou pony with 279 base pairs. Fragment 2 was amplificated from the c DNA of heart with 216 bp in length. Fragment 1 and 2 were matched with the exon 2 and 3 of human SHOX gene, respectively. In peptide with 72 amino acids coded by fragment 2 of SHOX gene, the phosphorylation site at Ser16 and the DNA binding domain were conserved from mammals to zebra fish. Fragment 1 of Guizhou pony was aligned to the scaffold118 which had not been placed into the reference genome of Equus caballus. Based on the location of X chromosome-related genes, SHOX gene of horse might be ranged at the end of chromosome X. The polymorphisms of fragment 1and 2 were further compared between two horse populations, Guizhou pony and Ile horse, with different body heights.A total of six nucleotide changes were found out from sequences of fragment 1 and 2 but the frequencies of six SNP sites were not significant between Guizhou pony and Ili horse. Changes at site G193 C and G193 A resulted a substitu-tion from Gly to Arg of SHOX in Guizhou pony which was also detected from a patient with Leri-Weill dyschondros-teosis(LWD). It suggested that SHOX gene presented in the genome of horse with expression activity. There was not significant between frequencies distribution of exon 2 and 3 of SHOX gene in two horse populations while SHOX gene mutant might effect on the bone development in individual pony.

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