Disease relevance of C20orf28

• These results demonstrate that in the AE24 mouse line the EGF receptor transgene was integrated into and inactivated an endogenous autosomal gene, causing sperm flagellar axonemal disruption and male sterility [1].
• Abnormal distribution of the periaxonemal structures in a human sperm flagellar dyskinesia [2].

High impact information on C20orf28

• An Mr 63-kD sea urchin sperm flagellar membrane protein has been previously implicated as a possible receptor for egg jelly ligand(s) that trigger the sperm acrosome reaction (AR) [3].
• Biochemical characterization of tektins from sperm flagellar doublet microtubules [4].
• A lithium-sensitive regulator of sperm flagellar oscillation is activated by cAMP-dependent phosphorylation [5].
• A sea urchin sperm flagellar adenylate kinase with triplicated catalytic domains [6].
• Using antibodies raised against sea urchin sperm flagellar microtubule proteins, we characterize here the presence and behavior of certain components associated with centrosomes of the surf clam Spisula solidissima and cultured mammalian cells [7].

Biological context of C20orf28

• Expression analysis of Spef1 in mice shows that it is expressed predominantly in adult testis, suggesting a role in spermatogenesis [8].
• Recent studies on human and mouse sperm have suggested that calcium signaling via a testicular OR regulates sperm flagellar motility [9].
• ICSI provides a suitable solution for patients with sperm flagellar defects but raises the question of the consequences of a specific (and primary flagellar) abnormality on oocyte fertilization, on embryo and fetal development as well as on live birth [10].

Anatomical context of C20orf28

• Spef1, a conserved novel testis protein found in mouse sperm flagella [8].
• Further immunohistochemical analysis using electron microscopy shows Spef1 to be present in the tails of developing and epididymal sperm, internal to the fibrous sheath and around the outer dense fibres of the sperm flagellum [8].
• Using an antibody generated to recombinant Spef1, we demonstrate a specific pattern of Spef1 localisation in the seminiferous epithelium of adult mouse testis [8].
• First, ciliary dynein and sperm flagellar dynein, although derived from very similar organelles and from the same species of sea urchin, are immunologically distinct [11].
• Sperm flagellar motion is the outcome of a dynamic interplay between the axonemal cytoskeleton, the peri-axonemal accessory structures, and multiple regulatory networks that coordinate to produce flagellar beat and waveform [12].

Associations of C20orf28 with chemical compounds

• These results indicate a strong correlation of hyperactivation with the tyrosine phosphorylation of sperm flagellar peptides, and they strongly implicate an 80-kDa component as a major mediator of the mechanism that produces hyperactivated motility of hamster sperm [13].
• In view of the inhibitory effects of D-propranolol on sperm flagellar activity, we have investigated its effect on motility and growth of two human flagellate, protozoan parasites [14].
• In the present study, the authors examined the SH proteins involved in sperm flagellar bending using two-dimensional polyacrylamide gel electrophoresis and monobromobimane, an SH-specific fluorescent dye [15].
• Affinity-purified antibodies against Strongylocentrotus purpuratus sperm flagellar tektin polypeptides have been tested for cross-reactivity with microtubules isolated from various sources, using indirect immunofluorescent staining and antibody binding to nitrocellulose replicas of SDS polyacrylamide gels [16].

Analytical, diagnostic and therapeutic context of C20orf28

• Localization of cytoplasmic dynein ATPase in the mitotic spindle was investigated by electron microscopic immunocytochemistry with a monoclonal antibody (D57) against sea urchin sperm flagellar 21S dynein and colloidal gold-labeled second antibody [17].
• Immunoblotting with antibodies against sea-urchin sperm flagellar tektins indicates that the tektins remain within the ciliary remnant, supporting their location within the junctional protofilament domain [18].

References