Dissociated centriole development as a cause of spermatid malformation in man

Holstein, A. F.; Schill, W.‐B.; Breucker, Haide

doi:10.1530/jrf.0.0780719

Cited by 44 publications

(38 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Among all reported human cases of acephalic spermatozoa, only several displayed acephalic spermatozoa with full penetrance (∼100% headless), with the rest displaying various percentages of acephalic spermatozoa (5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19). Similarly, mice lacking Odf1 or Oaz3 also display acephalic spermatozoa with partial penetrance (21,22).…”

Section: Discussionmentioning

confidence: 99%

“…Numerous cases of acephalic spermatozoa have been reported in teratozoospermic patients (5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19). In these patients, the major anomaly lies in headless spermatozoa in the ejaculate, and the headless spermatozoa were initially called "pinhead sperm" because the investigators mistakenly regarded the retained cytoplasmic droplets, which are usually attached to the midprincipal piece junction of the flagella, as the heads of reduced size (8,13,14).…”

mentioning

confidence: 99%

See 1 more Smart Citation

Spata6is required for normal assembly of the sperm connecting piece and tight head–tail conjunction

Yuan

Stratton

Bao

et al. 2015

Proc. Natl. Acad. Sci. U.S.A.

139

116

View full text Add to dashboard Cite

"Pinhead sperm," or "acephalic sperm," a type of human teratozoospermia, refers to the condition in which ejaculate contains mostly sperm flagella without heads. Family clustering and homogeneity of this syndrome suggests a genetic basis, but the causative genes remain largely unknown. Here we report that Spata6, an evolutionarily conserved testis-specific gene, encodes a protein required for formation of the segmented columns and the capitulum, two major structures of the sperm connecting piece essential for linking the developing flagellum to the head during late spermiogenesis. Inactivation of Spata6 in mice leads to acephalic spermatozoa and male sterility. Our proteomic analyses reveal that SPATA6 is involved in myosin-based microfilament transport through interaction with myosin subunits (e.g., MYL6).M ale gametes-spermatozoa-are produced in the testis through a process termed spermatogenesis, which can be divided into three phases: mitotic, meiotic, and haploid (1). In the mitotic phase, spermatogonial stem cells proliferate and differentiate into spermatogonia, which subsequently enter the meiotic phase and become spermatocytes. Spermatocytes undergo crossover, followed by two consecutive meiotic cell divisions to produce haploid spermatids. Spermatids then undergo a multistep differentiation process, also called spermiogenesis, to form spermatozoa. Severe disruptions in either the mitotic or the meiotic phase tend to cause azoospermia, whereas spermiogenic defects often lead to reduced sperm counts, aberrant sperm motility, and deformed spermatozoa, a condition termed oligoasthenoteratozoospermia (OAT) in humans (2, 3).OAT accounts for a significant proportion of male idiopathic infertility cases (2, 4). Numerous cases of acephalic spermatozoa have been reported in teratozoospermic patients (5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19). In these patients, the major anomaly lies in headless spermatozoa in the ejaculate, and the headless spermatozoa were initially called "pinhead sperm" because the investigators mistakenly regarded the retained cytoplasmic droplets, which are usually attached to the midprincipal piece junction of the flagella, as the heads of reduced size (8,13,14). Extensive ultrastructral studies on humans and animals with acephalic spermatozoa suggest that this condition results from defects in formation of the connecting piece of spermatozoa during late spermiogenesis, including failure for the proximal centrioles to attach normally to the caudal portion of the sperm nuclei, leading to abnormal head-midpiece alignment, or a nuclear defect that interferes with formation of the implantation fossa, the normal lodging site for the sperm proximal centriole (16). Aberrant formation of the connecting piece leads to independent development of the sperm heads and flagella, and eventually these structures become separated within the seminiferous tubules or during their transition through the seminal tract as a consequence of increased instability of the head-midpiece junction (16,18)....

show abstract

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Spata6is required for normal assembly of the sperm connecting piece and tight head–tail conjunction

Yuan

Stratton

Bao

et al. 2015

Proc. Natl. Acad. Sci. U.S.A.

139

116

View full text Add to dashboard Cite

show abstract

“…Head-tail detachment is provoked by specific morphological defects affecting the tight insertion of the tail into the implantation fossa. Thus, decapitation occurred at the level of the proximal centriole, resulted from the dissociation between proximal and distal centrioles, originated from defects in the implantation fossa and the basal plate or might be due to dysfunctional sperm centrioles affecting migration and positioning of the tail (Perotti et al 1981, Baccetti et al 1984, Holstein et al 1986, Chemes et al 1987, Toyama et al 2000. ODF1 is restricted to spermatids and localised to the ODFs, capitulum and basal plate, thus implying that its function is required only in the germ cell and specifically in headtail coupling (Burmester & Hoyer-Fender 1996, Schalles et al 1998, Yang et al 2012.…”

Section: Discussionmentioning

confidence: 99%

Haplo-deficiency of ODF1/HSPB10 in mouse sperm causes relaxation of head-to-tail linkage

Yang¹,

Grzmil²,

Meinhardt³

et al. 2014

Reproduction

View full text Add to dashboard Cite

The small heat shock protein ODF1/HSPB10 is essential for male fertility in mice. Targeted deletion of Odf1 resulted in acephalic sperm in homozygous mice of mixed background (C57BL/6J//129/Sv), whereas heterozygous animals are fully fertile. To further elucidate the function of ODF1, we generated incipient congenic mice with targeted deletion of Odf1 by successive backcrossing on the 129/Sv background. We observed that fecundity of heterozygous Odf1 C/K male mice was severely reduced over backcross generations. However, neither aberrant sperm parameters nor sperm anomalies could be observed. Ultra-structural analyses of sperm from incipient congenic heterozygous Odf1 C/K males of backcross generation N7 revealed no obvious pathological findings. However, we observed an enlargement of the distance between nuclear membrane and capitulum, indicating a weakening of the sperm head-to-tail coupling. Severe male subfertility provoked by haplo-deficiency of ODF1 is therefore most probably caused by impaired head-to-tail coupling that eventually might induce sperm decapitation on the specific conditions of in vivo fertilisation. As subfertility in haplo-deficient ODF1 male mice could not be diagnosed by semen analysis, it seems to be a paradigm for unexplained infertility that is a frequent diagnosis for male fertility impairment in humans.

show abstract

“…Holstein et al [68] reported a case where the basal plate and implantation fossa were normal in morphology, while separation occurred between the proximal and distal centrioles. Baccetti et al [66] described a patient with sperm ruptures occurring between the nucleus and centriole region, between the anterior and caudal regions of the mid-piece, and between the mid-piece and principal piece.…”

Section: Centrosome Abnormalitiesmentioning

confidence: 99%

Ultrastructure of Spermatozoa from Infertility Patients

Брагина¹,

Bocharova²

2018

Spermatozoa - Facts and Perspectives

View full text Add to dashboard Cite

Standard examination of human semen currently remains a main test for examination of male fertility disorders. Although parameters of sperm quality in fertile men are generally higher than in sterile ones, there is a substantial overlap between the two populations, indicating that other important factors affect fertility, but are not assessed in conventional assay. Currently, tests determining the functional properties of sperm have been intensively developed. This review considers an electron microscopic examination of sperm, which assesses the structure and function of the sperm nuclear, penetration and motor apparatus. The detection of sperm chromatin structure can help to understand the causes of early embryonic malformation. Genetically caused and functional disorders of the structure and function of spermatozoa are discussed. Indications for electron microscopic examination of spermatozoa in fertility disorders are given.

show abstract

Dissociated centriole development as a cause of spermatid malformation in man

Cited by 44 publications

References 5 publications

Spata6is required for normal assembly of the sperm connecting piece and tight head–tail conjunction

Spata6is required for normal assembly of the sperm connecting piece and tight head–tail conjunction

Haplo-deficiency of ODF1/HSPB10 in mouse sperm causes relaxation of head-to-tail linkage

Ultrastructure of Spermatozoa from Infertility Patients

Contact Info

Product

Resources

About