Lavorgna G, Malva C, Manzi A, Gigliotti S, Graziani F
Istituto Internazionale di Genetica e Biofisica, Naples, Italy.
Genetics. 1989 Nov;123(3):485-94. doi: 10.1093/genetics/123.3.485.
The abnormal oocyte mutation (2;44) originates in the wild: it confers no visible phenotype on homozygous abo males or females, but homozygous abo females produce defective eggs and the probability of their developing into adults is much lower than that of heterozygous sister females. We isolated by chromosome walking 200 kb of DNA from region 32. This paper reports that a restriction enzyme site polymorphism analysis in wild type and mutant stocks allowed us to identify a DNA rearrangement present only in stocks carrying the abo mutation. The rearrangement is caused by a DNA insert on the abo chromosome in region 32E which, by restriction map and sequence analysis, was identified as copia-like blood transposon. The transposon, in strains that had remained in abo homozygous conditions for several generations and had lost the abo maternal-effect, was no longer present in region 32E. Certain features of the abo mutation, discussed in the light of this finding, may be ascribed to the nature of the particular allele studied.
异常卵母细胞突变(2;44)源于野生型:纯合abo雄性或雌性无可见表型,但纯合abo雌性产生有缺陷的卵子,其发育成成虫的概率远低于杂合的姐妹雌性。我们通过染色体步移从32区分离出200 kb的DNA。本文报道,野生型和突变型品系的限制性酶切位点多态性分析使我们能够鉴定出仅存在于携带abo突变的品系中的DNA重排。这种重排是由32E区abo染色体上的一个DNA插入引起的,通过限制性图谱和序列分析,该插入被鉴定为类copia血液转座子。在几代都处于abo纯合状态且失去abo母性效应的品系中,转座子不再存在于32E区。根据这一发现讨论的abo突变的某些特征,可能归因于所研究的特定等位基因的性质。