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Table 1 Summary table of genes identified in patients displaying a MMAF phenotype

From: Genetic causes of male infertility: snapshot on morphological abnormalities of the sperm flagellum

     Mutant models
Gene Mutation Frequency Protein features Protein localisation Mouse model Chlamydomonas Tetrahymena Trypanosoma
DNAH1 7.69% Dynein Heavy chain - Inner Dynein Arm [14] MDHC7 mutant: Reduced ciliary beating and asthenozoospermia (no MMAF-like phenotype) [14] dhc1b/dhc2 mutant: short flagella [13] - -
CFAP43 12.8% WD repeat domains - cilia associated and component of the (T/TH) complex connected to inner dynein arm [18,19,20] (Tetrahymena, Chlamydomonas), - flagellar protein located between doublet microtubules 5 and 6 and paraflagellar rod [6] (Trypanosoma) Asthenozoospermia (MMAF-like phenotype) [6] Fap43 gene deletion: Altered waveform, beat stroke and reduced swimming speed [18] TbCfap43 (Tb.927.4.5380) RNAi mutant: Cell growth defects, Abnormal flagellum beating (axonemal disorganization), normal flagellum length [6]
CFAP44 7.7% WD repeat domains - cilia associated and component of the (T/TH) complex connected to inner dynein arm [18,19,20] (Tetrahymena, Chlamydomonas), - flagellar protein located between doublet microtubules 5 and 6 and paraflagellar rod [6] (Trypanosoma) Asthenozoospermia (no MMAF like phenotype) [6] Fap44 gene deletion: Altered waveform, beat stroke and reduced swimming speed [18] TbCfap44 (Tb.927.7.3560) RNAi mutant: Cell growth defects, Abnormal flagellum beating (axonemal disorganization), normal flagellum length [6]
CFAP69 2.6% Armadillo-type α-helical repeats - cilia from olfactory sensory neurons [23], sperm flagellum midpiece (mammals) [17], - flagellar associated protein (Chlamydomonas) [21, 22] Olfactory defects [23] and Asthenozoospermia (MMAF-like phenotype) [17]
FSIP2 5.1% AKAP4 Interacting domain - sperm flagellum fibrous sheath (mammals) [24]
WDR66 (CFAP251) 9% calcium regulating EF-hand domain - sperm flagellum (mammals) [16], - flagella (Trypanosoma) [16], - radial spoke component (Chlamydomonas, Tetrahymena) [25, 26], Fap251 mutant: Reduced cell swimming, Impaired ciliary beating coordination, normal length [26] Tbwdr66 (Tb927.3.1670) deletion: Abnormal motility (axonemal disorganization), growth defects, normal flagellum length [16]
AK7 1.28% ADK domain, coiled-coil domain, DPY30 domain - cilia and sperm flagella (mammals) [27, 33]. PCD [33] and Asthenozoospermia (MMAF-like phenotype) [27]