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包括α-L-艾杜糖醛酸酶(Idua)在内的同源基因座的连锁而非基因顺序,在小鼠和人类基因组的亨廷顿病区域中是保守的。

Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes.

作者信息

Koizumi T, MacDonald M, Búcan M, Hopwood J J, Morris C P, Scott H S, Gusella J F, Nadeau J H

机构信息

Institute for Experimental Animals, Kanazawa University School of Medicine, Japan.

出版信息

Mamm Genome. 1992;3(1):23-7. doi: 10.1007/BF00355837.

Abstract

alpha-L-iduronidase (IDUA), which when deficient causes mucopolysaccharidosis type I, is located near the Huntington disease locus (HD) on human Chromosome (Chr) 4p16.3, approximately 10(6) base pairs (bp) from the telomere. As part of our continuing efforts to define a detailed comparative map for this chromosomal segment in mice and humans, we have used an interspecific backcross between C57BL/6J and an inbred strain derived from Mus spretus to map Idua, the mouse homolog of IDUA. We also mapped the mouse homolog of D4S115, an anonymous locus approximately 250 kb proximal to IDUA. As expected, both Idua and D4S115h are located on the proximal portion of mouse Chr 5 near homologs for other loci on human Chr 4p. Comparison of gene order in mice and humans demonstrates, however, that a chromosomal rearrangement within this conserved synteny has occurred since divergence of lineages leading to mice and humans.

摘要

α-L-艾杜糖醛酸酶(IDUA)缺乏时会导致I型黏多糖贮积症,该酶位于人类4号染色体(Chr)4p16.3的亨廷顿病基因座(HD)附近,距离端粒约10⁶个碱基对(bp)。作为我们持续努力为小鼠和人类的这一染色体片段绘制详细比较图谱的一部分,我们利用C57BL/6J与源自小家鼠的近交系之间的种间回交来定位Idua,即IDUA的小鼠同源基因。我们还定位了D4S115的小鼠同源基因,D4S115是一个位于IDUA近端约250 kb处的无名基因座。正如预期的那样,Idua和D4S115h都位于小鼠5号染色体的近端部分,靠近人类4p染色体上其他基因座的同源基因。然而,小鼠和人类基因顺序的比较表明,自导致小鼠和人类的谱系分化以来,在这一保守同线性区域内发生了染色体重排。

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