Table 2. Genes and proteins associated with manchette abnormalities in mice, and their functions in sperm morphological alterations.
| Gene | Protein | Mutations associated with sperm morphological disorder | Recognized/possible function in spermatogenesis | Reference |
|---|---|---|---|---|
| Katnb1 | KATNB1 | Motility disorders, elongated and knobbed-like manchette | MT severing | [54] |
| Lrguk1 | LRGUK1 | Short tail, elongated manchette and manchette's MT disorganized | Perinuclear ring movement | [1,15] |
| Sun4 | SUN4 | Round-headed sperm, coiled tail and disorganized manchette | Machette-nucleus connection (part of LINC complex) | [21,22] |
| Sun5 | SUN5 | Autosomal-recessive acephalic spermatozoa syndrome | Machette-nucleus connection (part of LINC complex) | [98] |
| Prss1 | PRSS1 (testitin) | Decreased motility, angulated and curled tails, fragile necks, and dramatically increased susceptibility to decapitation, acephalic spermatozoa syndrome | Directs epididymal sperm cell maturation and sperm-fertilizing ability | [2,54] |
| Oaz-t/Oaz3 | OAZ-t/OAZ-3 | Acephalic spermatozoa syndrome | Rigid connection of sperm tails to heads in mouse | [3,97] |
| Cntrob | Centrobin | Teratozoospermia, decapitated sperm syndrome | Spermatid head shaping and assembly of | [4,99] |
| Odf1 | ODF1/HSPB10 | Decapitated sperm head syndrome | Essential for tight linkage of sperm head to tail | [7,99] |
| Spata6 | SPATA6 | Acephalic spermatozoa | Assembly of the sperm connecting piece and tight head-tail conjunction | [99] |
| Kash | KASH | Disoriented sperm head | Bridge the inner and outer membranes of the nuclear envelope | [23] |
| Hook1 | HOOK1 | Short tail, elongated manchette and disorganized manchette MT | Microtubule and vesicle binding protein | [49,50] |
| Ift88 | IFT88 | Absent axoneme, disorganized tail, elongated manchette | Part of IFT complex B | [7,6,27] |
| Kif3A | KIF3A | Absent axoneme, disorganized tail, elongated manchette and knobbed-like shaped head | IFT motor protein | [100] |
SUN: Sad-1/UNC-84, OAZ: ornithine decarboxylase antizymes, ODF: outer dense fiber, HSP: HEAT shock protein, KASH: Klarsicht/ANC-1/Syne/homology, MT: microtubules, LINC: linker of nucleoskeleton and cytoskeleton, IFT: intra-flagellar transport.