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Sperm dysfunction and ciliopathy

  • Review Article
  • Published:
Reproductive Medicine and Biology

Abstract

Sperm motility is driven by motile cytoskeletal elements in the tail, called axonemes. The structure of axonemes consists of 9 + 2 microtubules, molecular motors (dyneins), and their regulatory structures. Axonemes are well conserved in motile cilia and flagella through eukaryotic evolution. Deficiency in the axonemal structure causes defects in sperm motility, and often leads to male infertility. It has been known since the 1970s that, in some cases, male infertility is linked with other symptoms or diseases such as Kartagener syndrome. Given that these links are mostly caused by deficiencies in the common components of cilia and flagella, they are called “immotile cilia syndrome” or “primary ciliary dyskinesia,” or more recently, “ciliopathy,” which includes deficiencies in primary and sensory cilia. Here, we review the structure of the sperm flagellum and epithelial cilia in the human body, and discuss how male fertility is linked to ciliopathy.

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Abbreviations

AK:

Adenylate kinase

ARMC:

Armadillo repeat containing

BB:

Basal body

BBS:

Bardet–Biedl syndrome

CEP:

Centrosomal protein

CCDC:

Coiled-coil domain-containing

CP:

Central pair apparatus

DC:

Docking complex

DNAAF:

Dynein axonemal assembly factor

DNAH:

Dynein, axonemal, heavy chain

DNAI:

Dynein, axonemal, intermediate chain

DNALI:

Dynein, axonemal, light intermediate chain

DYNC2:

Dynein, cytoplasmic 2

DYX1C1:

Dyslexia susceptibility 1 candidate 1

FAP:

Flagella-associated protein

FBB:

Flagellar basal body

FoxJ1:

Forkhead box J1

HC:

Heavy chain

HEATR:

HEAT-repeat containing

IC:

Intermediate chain

IAD:

Inner arm dynein

IDA:

Inner dynein arm

IFT:

Intraflagellar transport

IMT:

Intramanchette transport

Iqcg:

IQ motif containing G

LC:

Light chain

LRRC:

Leucine-rich repeat containing

MFN:

Mitofusin

MIA:

Modifier of inner arms

MKS:

McKusick–Kaufman syndrome

MNS1:

Meiosis-specific nuclear structural 1

N-DRC:

Nexin-dynein regulatory complex

NPHP:

Nephronophthisis

OAD:

Outer arm dynein

ODA:

Outer dynein arm

ODF:

Outer dense fiber

OFD:

Oral-facial-digital syndrome

PACRG:

Parkin co-regulated gene

PCD:

Primary ciliary dyskinesia

Pcdp1:

Primary ciliary dyskinesia protein 1

PCP:

Planar cell polarity

PF:

Paralyzed flagella

PIH:

Protein interacting with HSP90

PKD:

Polycystic kidney disease

RFX:

Regulatory factor X

RPGR:

Retinitis pigmentosa GTPase regulator

RS:

Radial spoke

SPAG:

Sperm-associated antigen

Spef2:

Sperm flagellar protein 2

TXNDC:

Thioredoxin domain containing

TZ:

Transition zone

VDAC3:

Voltage-dependent anion channel 3

XLRP:

X-linked retinitis pigmentosa

ZMYND:

Zinc-finger, MYND-type containing protein

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Acknowledgments

This work was supported in part by Grants-in-aid #15H01201 for Scientific Research on Innovative Areas and #22370023 for Scientific Research (B) from the Ministry of Education, Culture, Sports, Science, and Technology of Japan (MEXT). Studies with marine invertebrates cited in this paper were supported by the members of the Onagawa Field Research Center, Tohoku University; International Coastal Research Center, AORI, The University of Tokyo; and staff of the National Bioresource Project.

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Authors and Affiliations

  1. Shimoda Marine Research Center, University of Tsukuba, 5-10-1 Shimoda, Shizuoka, 415-0025, Japan

    Kazuo Inaba & Katsutoshi Mizuno

  2. Department of Biological Sciences, Dartmouth College, Hanover, NH, 03755, USA

    Katsutoshi Mizuno

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  1. Kazuo Inaba
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  2. Katsutoshi Mizuno
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Correspondence to Kazuo Inaba.

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Inaba, K., Mizuno, K. Sperm dysfunction and ciliopathy. Reprod Med Biol 15, 77–94 (2016). https://doi.org/10.1007/s12522-015-0225-5

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  • DOI: https://doi.org/10.1007/s12522-015-0225-5

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