Iannuzzi L, Di Meo G P, Ryan A M, Gallagher D S, Ferrara L, Womack J E
National Research Council (CNR), Naples-Ponticelli, Italy.
Chromosome Res. 1994 May;2(3):255-6. doi: 10.1007/BF01553326.
Uridine monophosphate synthase plays an important role in pyrimidine synthesis, converting orotic acid to uridine 5' monophosphate. In cattle, UMPS deficiency is inherited as a monogenic autosomal recessive trait. While heterozygous carriers are phenotypically normal, homozygotes are lethal in utero (Shanks et al. 1992). UMPS has been mapped to human chromosome 3q13 (Qumsiyeh et al. 1989), sheep chromosome 1q (Burkin et al. 1993) and cattle chromosome 1q31 (Ryan et al. 1994). In the present study we used a cattle genomic probe to localize UMPS to river buffalo chromosomes by fluorescence in situ hybridization.
尿苷单磷酸合酶在嘧啶合成中起重要作用,可将乳清酸转化为尿苷5'-单磷酸。在牛中,尿苷单磷酸合酶缺乏症作为一种单基因常染色体隐性性状遗传。虽然杂合子携带者在表型上是正常的,但纯合子在子宫内是致死的(尚克斯等人,1992年)。尿苷单磷酸合酶已被定位到人类3号染色体q13区域(库姆西耶等人,1989年)、绵羊1号染色体q区域(伯金等人,1993年)和牛1号染色体q31区域(瑞安等人,1994年)。在本研究中,我们使用牛基因组探针通过荧光原位杂交将尿苷单磷酸合酶定位到河流型水牛染色体上。