Table 3.
Characteristics of the pathogenetic genes in multiple morphological abnormalities of the sperm flagella
| Gene | Protein structural domains | Summary of overall gene expression pattern | Organs with enhanced expression at different levels |
|---|---|---|---|
| DNAH1 | Pfam: DHC-N2; AAA_6; AAA_5; AAA_7; AAA_8; MT; AAA_9; Dynein heavy |
Distinct expression in cilia of respiratory epithelium and fallopian tube |
Protein- or RNA-level: nasopharynx; fallopian tube; testis |
| CFAP43 | SMART: WD40*5 | Tissue enhanced in reproductive organ | RNA-level: testis; fallopian tube; epididymis |
| CFAP44 | SMART: WD40*6 | Cytoplasmic expression in Spleen, cerebral cortex and skin | Protein-level: spleen, cerebral cortex and skin RNA-level: testis; fallopian tube |
| AK7 | Pfam: ADK; DPY-30 | Distinct expression in ciliated cells, accompanied with cytoplasmic expression in several tissues |
Protein-level: fallopian tube; endometrium; nasopharynx RNA-level: fallopian tube; testis |
| AKAP3 | SMART: AKAP_110 | Cytoplasmic expression in spermatids and epididymis |
Protein- or RNA-level: testis; epididymis |
| AKAP4 | SMART: AKAP_110 | Selective expression in spermatids of seminiferous ducts |
Protein- or RNA-level: testis |
| FSIP2 | No | Tissue enriched (testis) | Protein- or RNA-level: testis |
| CFAP69 | No | Luminal membranous expression in fallopian tube, respiratory epithelia and small intestines |
Protein-level: nasopharynx; lung; intestine; fallopian tube RNA-level: prostate; fallopian tube; epididymis; testis |
| CEP135 | No | Expressed in all | RNA-level: lymph node; testis; endometrium; thymus |
DNAH1: dynein axonemal heavy chain 1; CFAP43: cilia- and flagella-associated protein 43; AK7: adenylate kinase 7; AKAP4: A-kinase anchoring protein 4; FSIP2: fibrous sheath interacting protein 2; CFAP69: cilia and flagella associated protein 69; CEP135: centrosomal protein 135