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Table 1 Retrotransposition competent L1 elements chosen for genotyping and methylation analysis in ALS cohort

From: Frequency and methylation status of selected retrotransposition competent L1 loci in amyotrophic lateral sclerosis

Name Percentage of retrotransposition activity of L1RP [11, 14, 42] Ref/non-ref Insertion Allele Frequency [11, 15] Number of germline offspring elements from 3′ transduction analysis [15] Number of 3′ transduction somatic insertions in cancer [17] Chromosomal loci
L1_chr2_q24.1 150 Non-ref RIP na,0.16 41/121 21/655 chr2:156,527,848
intergenic
L1_chr6_q24.1 141 Non-ref RIP na,0.18 14/121 98/655 chr6:13,191,033
Intron PHACTR1
L1_chrX_p22.2 132 Ref RIP 0.34,0.74 1/121 20/655 chrX:11,953,208
intergenic
L1_chr6_p22.3 112.7 Ref RIP 0.30,0.61 2/121 2/655 chr6:24,811,907
Intron FAM65B
L1_chr8_q24.22 89.4 Ref RIP 0.44,1 2/121 4/655 chr8:135,082,987
intergenic
L1_chr1_p12 Ref 1,1 13/121 7/655 chr1:119,394,974
intergenic
L1_chr22_q12.1 13.8 Ref 1,1 2/121 137/655 chr22:29,059,272
Intron TTC28
  1. The RC-L1 elements were shortlisted based on their high level of activity in a cellular retrotransposition assay [11, 14, 42], high number of germline offspring elements from 3′ transductions analysis [15] or high number of somatic insertions in cancer from 3′ transductions analysis [17]. Non-ref RIP: L1s that are not in the human reference genome and are polymorphic for their presence/absence. Ref RIP: L1s that are present in the human reference genome and are polymorphic for their presence/absence. Ref: L1s present in the human reference genome and there is currently no evidence that they are polymorphic for their presence/absence