Fig. 1: The DNALI1 loss leads to the asymmetrical development of sperm fibrous sheaths in humans. | Cell Death & Disease

Fig. 1: The DNALI1 loss leads to the asymmetrical development of sperm fibrous sheaths in humans.

From: DNALI1 deficiency causes male infertility with severe asthenozoospermia in humans and mice by disrupting the assembly of the flagellar inner dynein arms and fibrous sheath

Fig. 1: The DNALI1 loss leads to the asymmetrical development of sperm fibrous sheaths in humans.The alternative text for this image may have been generated using AI.

A Pedigree analysis of the family affected by bi-allelic DNALI1 mutations, as identified by WES. The black-filled squares represent the infertile males of this family. B The WES-identified mutations are further confirmed via Sanger sequencing. The black box marks the missing sequence. C DNALI1 is missing in spermatozoa from the patient. D Spermatozoa from a fertile control male and the DNALI1663_666del patient are stained with anti-DNALI1 and anti-βTUBULIN (β-TUB). E Light microscopy revealed spermatozoa with normal morphology from the DNALI1663_666del patient and a control male. F TEM images of the flagellar cross-sectional structure of a control human and patient. The red arrow represents an obvious IDA. The numbers highlight the quantity of peripheral microtubules. A yellow dash represents the LCs, which are diagonally positioned in the control spermatozoa. G TEM cross-sections of the principal piece of sperm are quantified and categorized according to the LC symmetry. H and I Immunofluorescence (IF) staining against AKAP4 and GAPDHS. The asterisk indicates a significant decrease in AKAP4 protein expression.

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