Summary of the mutant alleles isolated in the <i>sma-9</i> suppressor screen.

Suppression was determined based on the number of M lineage-derived coelomocytes (CCs). sma-9(cc604) hermaphrodites have 0 M lineage-derived CCs, while wild-type worms have 2. ND: not determined a The worms scored are homozygous for sma-9(cc604) and homozygous for the suppressor indicated. b The worms scored are homozygous for sma-9(cc604) and heterozygous for the suppressor indicated. c Reported in [20]. d Reported in [21]. e Reported in [22]. f Both jj65 and jj85 complemented dbl-1(wk70) and do not carry any molecular lesions in the dbl-1 coding or 5’ and 3’ regulatory regions. gjj58 might be a dominant sma-9 suppressor and was not characterized in this study. hjj68, jj80, jj81 and jj84 were not characterized in this study due to their low degree of suppression of the sma-9 M lineage phenotype. i Predicted based on likely splicing defect. j The predicted truncation at the amino acid level was calculated assuming that the large deletion does not affect the stability of the lon-2 message in jj61 animals. The deletion also deletes the majority of the aman-1 coding region, leaving only 338bp of the aman-1 first exon to be present. The Susm phenotype is due to the loss of lon-2 function because jj61 failed to complement lon-2(e678) for the Susm phenotype. k Aberrant transcripts were confirmed by RT-PCR and reported in [22]. l Corresponding genes were identified via a combination of linkage analysis (linkage to cup-5(ar465) III, sma-9(cc604) X), snip-SNP mapping [86], and complementation tests based on the Susm phenotype, with the following alleles: dbl-1(wk70), sma-6(e1482), daf-4(m63), sma-2(e502), sma-3(e491), sma-4(e729), lon-2(e678), and lon-1(e185). m Corresponding genes were identified via WGS (see Materials and methods). n Corresponding genes were identified via SNP-WGS (see Materials and methods). o In addition to carrying a mutation in sma-4, jj70 appears to carry another sma-9 suppressing mutation that maps to LG V and fails to complement jj65 and jj85. p All molecular lesions were identified or confirmed by Sanger Sequencing. q A fragment containing 3kb of upstream sequences, the genomic coding region and 2kb of downstream sequences of sma-6 rescued the Susm phenotype of jj69. Summary of the mutant alleles isolated in the sma-9 suppressor screen.本研究通过M谱系来源的体腔细胞（coelomocytes, CCs）数量来判定抑制效果。sma-9(cc604) 雌雄同体个体的M谱系来源体腔细胞数量为0，而野生型线虫为2个。 ND：未测定（not determined） a：本次统计的线虫同时为sma-9(cc604)纯合突变体，以及所指示的抑制子纯合突变体。 b：本次统计的线虫同时为sma-9(cc604)纯合突变体，以及所指示的抑制子杂合突变体。 c：相关结果已在文献[20]中报道。 d：相关结果已在文献[21]中报道。 e：相关结果已在文献[22]中报道。 f：jj65与jj85均能与dbl-1(wk70)发生互补，且在dbl-1的编码区及其5'、3'调控区域未发现任何分子变异。 g：jj58可能为显性sma-9抑制子，本研究未对其进行表征分析。 h：由于jj68、jj80、jj81与jj84对sma-9的M谱系表型抑制程度较低，本研究未对其进行表征分析。 i：该结果基于潜在的剪接缺陷进行预测。 j：本次氨基酸水平的截短预测基于以下假设：jj61个体中发生的大片段缺失不会影响lon-2转录本的稳定性。该缺失同时删除了aman-1编码区的大部分序列，仅保留aman-1第一外显子的338bp片段。jj61无法与lon-2(e678)在Susm（sma-9抑制子）表型上发生互补，表明Susm（sma-9抑制子）表型由lon-2功能丧失导致。 k：异常转录本已通过逆转录聚合酶链式反应（Reverse Transcription-Polymerase Chain Reaction, RT-PCR）验证，并已在文献[22]中报道。 l：相关基因通过以下联合分析得以鉴定：连锁分析（与III号染色体上的cup-5(ar465)、X染色体上的sma-9(cc604)连锁）、酶切扩增多态性单核苷酸多态性（snip-SNP）定位[86]，以及基于Susm（sma-9抑制子）表型的互补测验，所用等位基因包括：dbl-1(wk70)、sma-6(e1482)、daf-4(m63)、sma-2(e502)、sma-3(e491)、sma-4(e729)、lon-2(e678)与lon-1(e185)。 m：相关基因通过全基因组测序（Whole Genome Sequencing, WGS）鉴定（详见材料与方法）。 n：相关基因通过单核苷酸多态性全基因组测序（SNP-WGS）鉴定（详见材料与方法）。 o：除携带sma-4突变外，jj70似乎还携带另一个sma-9抑制子突变，该突变定位于V号连锁群（Linkage Group, LG V），且无法与jj65和jj85发生互补。 p：所有分子变异均通过桑格测序（Sanger Sequencing）鉴定或验证。 q：包含sma-6上游3kb序列、基因组编码区及下游2kb序列的DNA片段，能够恢复jj69的Susm（sma-9抑制子）表型。 本研究在sma-9抑制子筛选中分离得到的突变等位基因汇总。