在小鼠Mgf基因外显子5中检测到一个点突变(a至G),在Steel基因座上确定了一个新的等位基因,具有弱表型1

Jochen Graw, Angelika Neuhäuser-Klaus, Walter Pretsch
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引用次数: 2

摘要

描述了编码肥大细胞生长因子(Mgf)的基因座上的一个新突变,并将其命名为MgfSl-3Neu。纯合突变体有浅灰色的皮毛,有时有白色斑块。同卵是可育的,但当相互交配时,产仔数减少。血液学参数分析表明,突变型和野生型小鼠之间没有差异。从纯合突变体的大脑中获得的cDNA的序列分析显示A→在位置400处的G交换导致来自Asn的预测氨基酸交换→Leu位于122位。由于预测的氨基酸交换,可以推断出α-螺旋结构的延伸和101-125位区域的亲水性降低。这种单一氨基酸交换在MGF的已知重要结构域之外,并解释了MgfSl-3Neu的弱表型。
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Detection of a point mutation (A to G) in exon 5 of the murine Mgf gene defines a novel allele at the Steel locus with a weak phenotype1

A new mutation at the locus encoding the mast cell growth factor (Mgf) is described and designated as MgfSl-3Neu. Homozygous mutants have a light grey fur, sometimes with white patches. Homozygotes are fertile, but with reduced litter size, when mated inter se. Analysis of haematological parameters indicated no difference between mutant and wild-type mice. Sequence analysis of the cDNA obtained from the brain of homozygous mutants revealed an A→G exchange at position 400 leading to a predicted amino acid exchange from Asn→Leu at position 122. As a consequence of the predicted amino acid exchange an extension of the α-helical context and a decreased hydropathicity of the region at positions 101–125 can be deduced. This single amino acid exchange is outside of the known important domains of MGF and explains the weak phenotype of MgfSl-3Neu.

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VOLUME CONTENTS Comprehensive analysis of a large genomic sequence at the putative B-cell chronic lymphocytic leukaemia (B-CLL) tumour suppresser gene locus Mutational analysis within the 3′ region of the PKD1 gene in Japanese families Allelic polymorphisms in the transcriptional regulatory region of human SEL1L CUMULATIVE AUTHOR INDEX FOR MUTNOM 2000
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