TABLE 1

C. cinereus rad50 mutations

MutationCorresponding amino acid changesd
AllelePositionbCodon changecPredicted mutant proteinMeiotic arrest stage
rad50-1aIntron 4eSee textTruncationDiffuse diplotene
rad50-2644TTG > TAGL215*TruncationND
rad50-31897AAG > TAGK633*TruncationDiffuse diplotene
rad50-7760CAG > TAGQ254*TruncationDiffuse diplotene
rad50-11583AAA > TAAK195*TruncationDiffuse diplotene
rad50-122164AAA > TAAK722*TruncationND
rad50-15a2929+TAC GCA AGG GSee textTruncationDiffuse diplotene
rad50-161783CGA > TGAR595*TruncationND
rad50-4aIntron 20fSee textInternal deletion/truncation, see textDiffuse diplotene
rad50-6Δ2583–2663Δ861–888Internal deletionDiffuse diplotene
rad50-5a2279CTC > CCCL742PFull-length with disrupted coiled coilDiffuse diplotene
rad50-92279CTC > CCCL742PFull-length with disrupted coiled coilDiffuse diplotene
rad50-102279CTC > CCCL742PFull-length with disrupted coiled coilDiffuse diplotene
rad50-8a850(aaa > aag)(K284K) L1234SSingle-site substitutionMetaphase-like
3701TTA > TCA
rad50-14a3703GAT > AATD1235NSingle-site substitutionDiffuse diplotene
rad50-13No change foundND
  • ND, not determined.

  • a Alleles studied in depth and shown in Figure 1C.

  • b All positions refer to nucleotides of the coding strand of the open reading frame except where indicated.

  • c Nucleotide changes are in boldface type.

  • d Single-letter amino acid designations are used. An asterisk denotes a stop codon.

  • e The end of intron 4's sequence is changed from CAG to CAA in rad50-1.

  • f The end of intron 20's sequence is changed from TAG to TCG in rad50-4.