Table 1.
Human genes known to be mutated in primary ciliary dyskinesia.
| Gene name | Locus | Protein location | TEM | Chlamydomonas orthologue |
|---|---|---|---|---|
| DNAH5 | Chr 5 | ODA | ODA truncation | ODA2/re11.g476050 |
| TXNDC3 | Chr 7 | ODA | ODA truncation | FAP67/Cre12.g558700 |
| DNAI1 | Chr 9 | ODA | ODA truncation | ODA9/DIC1/cre12.g536550 |
| DNAI2 | Chr 17 | ODA | ODA truncation | DIC2/Cre12.g506000 |
| DNAL1 | Chr 14 | ODA | ODA truncation | DIC1/Cre12.g536550 |
| CCDC114 | Chr 19 | ODA | ODA truncation | DCC2/Cre16.g666150 |
| ARMC4 | Chr 10 | ODA | ODA truncation | -- |
| CCDC151 | Chr 19 | ODA | ODA truncation | ODA10/Cre08.g361200 |
| CCDC103 | Chr 17 | ODA | ODA truncation | CCDC103/PR46/Cre06.g253404 |
| LRRC6 | Chr 8 | Cytoplasmic | ODA and IDA truncation | MOT48/Cre17.g739850 |
| HEATR2 | Chr 7 | Cytoplasmic | ODA and IDA truncation | HTR2/Cre09.g395500 |
| DYX1C1 | Chr 15 | Cytoplasmic | ODA and IDA truncation | Dyx1C1/Cre11.g467560 |
| DNAAF1 | Chr 16 | Cytoplasmic | ODA and IDA truncation | ODA7/DNAAF1/Cre01.g029150 |
| DNAAF3 | Chr 19 | Cytoplasmic | ODA and IDA truncation | PF22/DNAAF3/Cre01.g001657 |
| DNAAF2 | Chr 14 | Cytoplasmic | ODA and IDA truncation | PF13/DNAAF2/Cre09.g411400 |
| SPAG1 | Chr 8 | Cytoplasmic | ODA and IDA truncation | -- |
| C21orf59 | Chr 21 | Cytoplasmic | ODA and IDA truncation | FBB18/Cre16.g688450 |
| ZMYND10 | Chr 3 | Cytoplasmic | ODA and IDA truncation | ZMYND10/cre08.g358750 |
| HYDIN | Chr 16 | Central pair | Normal | Hydin/Cre01.g025400 |
| RSPH4A | Chr 6 | Radial spoke | Normal/central pair defect | RSP4/PF1/Cre05.g242500 |
| RSPH9 | Chr 6 | Radial spoke | Normal/central pair defect | RSP9/PF17/Cre07.g330200 |
| RSPH1 | Chr 21 | Radial spoke | Normal/central pair defect | RSP1/Cre03.g201900 |
| CCDC164 | Chr 2 | DRC | Normal/DRC defect | DRC1/Cre13.g607750 |
| CCDC39 | Chr 3 | DRC | Normal/DRC defect | PF8/Cre17.g701250 |
| CCDC40 | Chr 17 | DRC | Normal/DRC defect | PF7/Cre17.g698353 |
| CCNO | Chr 5 | Transcription | Reduced cilia number | -- |
| MCIDAS | Chr 5 | Transcription | Reduced cilia number | -- |
| DNAH11 | Chr 7 | ODA | Normal | ODA4/Cre09.g403800 |
| CCDC65 | Chr 12 | ODA | Normal | DRC2/Cre13.g607750 |
DRC: Dynein regulatory complex; Chr: chromosome; ODA: Outer dynein arm; IDA: Inner dynein arm Chlamydomonas genes are found at: http://phytozome.jgi.doe.gov/pz/portal.html#!info?alias=Org_Creinhardtii