Table 1.
List of genes for human ciliopathy affecting specific axonemal structures and sperm motility
| Human gene | Protein | Localization | Chlamydomonas protein | Defect | References |
|---|---|---|---|---|---|
| DNAH5 | Dynein heavy chain | ODA | γ HC | ODA | [200] |
| DNAH11 | Dynein heavy chain (lrd dynein) | Putative ODA | Similar to β HC | n.d. | [149, 201] |
| DNAH7 | Dynein heavy chain | Putative IDA | DHC5 (β HC) | IDA, ODF a | [143, 202] |
| DNAI1 | Dynein intermediate chain | ODA | IC1/IC78 | ODA | [203] |
| DNAI2 | Dynein intermediate chain | ODA | IC2/IC69 | ODA | [204] |
| DNAL1 | Dynein light chain | ODA | LC1 | ODA a | [205] |
| TXNDC3/NME8 | Dynein intermediate chain | ODA | n.d. | ODA | [206] |
| TCTE3 | Dynein light chain | ODA | Tctex2 | ODA | [207] |
| DNALI1 | Dynein light chain | IDA | p28 | IDA | [144] |
| CCDC114 | Coiled‐coil protein | ODA | DCC2 | ODA | [153] |
| ARMC4 | Armadillo repeat containing protein 4 | ODA | n.d. | ODA | [160] |
| CCDC151 | Coiled‐coil domain containing 151 | ODA | ODA10 | ODA | [208] |
| CCDC103 | Coiled‐coil protein | ODA | CCDC103 | ODA | [161, 163] |
| RSPH1 | Radial spoke head protein | RS | RSP1 | RS, CP | [131] |
| RSPH9 | Radial spoke protein | RS | RSP9 | RS, CP | [138] |
| RSPH4A | Radial spoke protein | RS | RSP4 | RS, CP | [138] |
| HYDIN | Hydin (gene causing hydrocephalus) | CP (C2b) | Hydin | CP | [137, 209] |
| Spag6 | Sperm antigen 6 | CP | PF16 | CP a | [210] |
| Spag16L | Sperm antigen 16 | CP | PF20 | CP a | [175] |
| SPAG17 | Sperm antigen 17 | CP (C1) | PF6 | CP | [211] |
| Ak7 | Adenylate kinase 7 | CP | n.d. | CP, DMT | [212] |
| HSF‐1 | Heat shock transcription factor 1 | CP | n.d. | CP, DMT | [213] |
| Pacrg | Parkin co‐regulated gene product | DMT | PACRG | DMT | [172] |
| TECT2 | Tektin 2 | DMT | p58 b | IDA, DMT | [214] |
| HEATR2/DNAAF5 | HEAT‐repeat containing 2 | Cytoplasm | Cre03.g162400.t1.1 c | ODA | [130] |
| LRRC6 | Leucine‐rich repeat containing 6 | Cytoplasm | Cre17.g739850.t1.2 c | ODA, IDA | [131, 215] |
| DNAAF3 | Dynein axonemal assembly factor 3 | Cytoplasm | PF22 | ODA, IDA | [128] |
| ZMYND10 | Zinc finger, MYND‐type containing 10 | Cytoplasm | Cre08.g384628.t1.1 c | ODA, IDA | [216] |
| DNAAF4 | Dynein axonemal assembly factor 4 (DYX1C1) | Cytoplasm | Cre11.g467560.t1.1 c | ODA, IDA | [129] |
| SPAG1 | Sperm antigen 1 | Cytoplasm | Cre16.g682251.t1.1 c | ODA, IDA | [134] |
| C21ORF59 | Chromosome 21, ORF59 | Flagellar matrix | FBB18 | ODA, IDA | [163] |
| DNAAF1 | Dynein axonemal assembly factor 1 (LRRC50) | Cytoplasm | ODA7 | ODA, IDA | [126, 127] |
| DNAAF2 | Dynein axonemal assembly factor 2 (KTU) | Cytoplasm | PF13 | ODA, IDA | [125] |
| Pih1d3 | PIH1 domain‐containing protein | Cytoplasm | n.d. | ODA and IDA | [187] |
| CCDC39 | Coiled‐coil domain containing 39 | AX | FAP59 | IDA, DMT | [167] |
| CCDC40 | Coiled‐coil domain containing 40 | Cilia/cytoplasm | Cre05.g238270.t1.1 c | CP, IDA | [168] |
| CCDC164 | Coiled‐coil domain containing 164 | N‐DRC | DRC1 | N‐DRC | [169] |
| CCDC65 | Coiled‐coil domain containing 65 | N‐DRC | FAP250 | N‐DRC | [163] |
ODA outer dynein arm, IDA inner dynein arm, RS radial spoke, CP central apparatus, DMT doublet microtubule, N‐DRC nexin‐dynein regulatory complex, AX axoneme, ODF outer dense fiber, n.d. not defined
aObserved in mouse
bp58 is a homolog of tektin B1 (tektin 2) [217]
cID of the genes showing highest similarity in the Chlamydomonas reinhardtii genome (database v5.5)