Chadwick B P, Mull J, Helbling L A, Gill S, Leyne M, Robbins C M, Pinkett H W, Makalowska I, Maayan C, Blumenfeld A, Axelrod F B, Brownstein M, Gusella J F, Slaugenhaupt S A
Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA.
Genomics. 1999 Jun 15;58(3):302-9. doi: 10.1006/geno.1999.5848.
Two novel human actin-like genes, ACTL7A and ACTL7B, were identified by cDNA selection and direct genomic sequencing from the familial dysautonomia candidate region on 9q31. ACTL7A encodes a 435-amino-acid protein (predicted molecular mass 48.6 kDa) and ACTL7B encodes a 415-amino-acid protein (predicted molecular mass 45. 2 kDa) that show greater than 65% amino acid identity to each other. Genomic analysis revealed ACTL7A and ACTL7B to be intronless genes contained on a common 8-kb HindIII fragment in a "head-to-head" orientation. The murine homologues were cloned and mapped by linkage analysis to mouse chromosome 4 in a region of gene order conserved with human chromosome 9q31. No recombinants were observed between the two genes, indicating a close physical proximity in mouse. ACTL7A is expressed in a wide variety of adult tissues, while the ACTL7B message was detected only in the testis and, to a lesser extent, in the prostate. No coding sequence mutations, genomic rearrangements, or differences in expression were detected for either gene in familial dysautonomia patients.
通过cDNA筛选和对9q31上家族性自主神经功能异常候选区域的直接基因组测序，鉴定出两个新的人类肌动蛋白样基因ACTL7A和ACTL7B。ACTL7A编码一种435个氨基酸的蛋白质（预测分子量48.6 kDa），ACTL7B编码一种415个氨基酸的蛋白质（预测分子量45.2 kDa），二者氨基酸序列一致性大于65%。基因组分析显示，ACTL7A和ACTL7B是无内含子基因，位于一个共同的8 kb HindIII片段上，呈“头对头”方向。通过连锁分析克隆并定位了小鼠同源基因，它们位于小鼠4号染色体上与人类9q31基因顺序保守的区域。在这两个基因之间未观察到重组，表明在小鼠中它们在物理位置上紧密相邻。ACTL7A在多种成年组织中表达，而ACTL7B仅在睾丸中检测到表达，在前列腺中表达较少。在家族性自主神经功能异常患者中，未检测到这两个基因的编码序列突变、基因组重排或表达差异。
