OF MICE AND MARFAN - GENETIC-LINKAGE ANALYSES OF THE FIBRILLIN GENES, FBN1 AND FBN2, IN THE MOUSE GENOME
OF MICE AND MARFAN - GENETIC-LINKAGE ANALYSES OF THE FIBRILLIN GENES, FBN1 AND FBN2, IN THE MOUSE GENOME
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DOI：
10.1007/bf00426075
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发表时间：
1994-11-01
期刊：
影响因子：
2.5
通讯作者：
SIRACUSA, LD
中科院分区：
文献类型：
--
作者：
GOLDSTEIN, C;LIAW, P;SIRACUSA, LD
原纤维蛋白基因FBN1和FBN2编码参与微原纤维结构和功能的大细胞外基质糖蛋白。马凡综合征是一种主要影响心血管、眼部和骨骼系统的遗传性结缔组织疾病，在马凡综合征患者中发现FBN1突变。我们通过确定这些基因在小鼠基因组中的染色体位置来扩展这些基因的研究。利用AEJ/Gn与繁殖鼠的种间回交祖细胞间限制性片段长度多态性（RFLPs），建立回交后代中小鼠同源物Fbn1和Fbn2的分离模式。结果将Fbn1定位在小鼠2号染色体上的B2m和Il1a基因之间，并确定其为紧致皮肤（Tsk）突变的候选基因。结果将Fbn2定位在小鼠Chr 18中心区域的D18Mit35和Pdgfrb位点之间。Fbn2接近三个突变[bouncy (be)，拔毛（pk）和shaker with syndactyly (sy)]，可能是pk突变的候选者。
The fibrillin genes, FBN1 and FBN2, encode large extracellular matrix glycoproteins involved in the structure and function of microfibrils. Mutations in FBN1 are found in patients with Marfan syndrome, a heritable connective tissue disease that primarily affects the cardiovascular, ocular, and skeletal systems. We extended the studies of these genes by determining their chromosomal position in the mouse genome. Restriction fragment length polymorphisms (RFLPs) between the progenitors of an interspecific backcross involving AEJ/Gn and Mus spretus mice were used to establish the segregation patterns of the murine homologs, Fbn1 and Fbn2, in the backcross progeny. The results position Fbn1 between the B2m and Il1a genes on mouse Chromosome (Chr) 2 and establish its candidacy for the Tight skin (Tsk) mutation. The results position Fbn2 between the D18Mit35 and Pdgfrb loci in the central region of mouse Chr 18. Fbn2 maps near three mutations [bouncy (be), plucked (pk), and shaker with syndactyly (sy)] and may be a candidate for the pk mutation.