Deficiency in AK9 causes asthenozoospermia and male infertility by destabilising sperm nucleotide homeostasis

Keywords

Asthenozoospermia

AK9

Nucleotide homeostasis

Energetic metabolism

Intracytoplasmic sperm injection

AbbreviationsWES

Whole-exome sequencing

ATP

Adenosine triphosphate

GAPDS

Glyceraldehyde 3-phosphate dehydrogenase-S

LDHC

Lactate dehydrogenase C

AMP

Adenosine monophosphate

MMAF

Multiple morphological abnormalities of the sperm flagella

PCD

Primary ciliary dyskinesia

OAT

Oligoasthenoteratozoospermia

CRISPR-Cas9

Clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated (Cas) endonuclease (Cas9)

WHO

World Health Organization

SEM

Scanning electron microscopy

TEM

Transmission electron microscopy

DAPI

4, 6-diamino-2-phenylindole

PBS

phosphate buffered saline

SCSA

Sperm chromatin structure assay

LC/MS

Liquid chromatography–mass spectrometry

ICSI

Intracytoplasmic sperm injection

GMP

Guanosine monophosphate

GTP

Guanosine triphosphate

TCA

Tricarboxylic acid cycle

ExAC

Exome Aggregation Consortium

SIFT

Sorting Intolerant from Tolerant

NP

Non-progressive motility

NAG

N-acetyl-D-(+)-glucosamine

FSH

Follicle stimulating Hormone

TZI

Teratozoospermia index

DFI

DNA fragmentation index

MMP

Mitochondrial membrane potential

© 2023 The Author(s). Published by Elsevier B.V.

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