Sperm Head Elongation Research Articles

Impaired semen quality, an increase of sperm morphological defects and DNA fragmentation associated with environmental pollution in urban population of young men from Western Siberia, Russia.

Poor sperm morphology and an elevated DNA fragmentation level are considered to be related to spermiogenesis malfunctions as a result of genetic mutations and effects of environmental factors, including industrial pollution. Standardized cross-sectional population studies of sperm morphology defects and sperm DNA fragmentation, especially in regions with increased environmental pollution may be helpful to investigate an influence of industrial pollution and other population-related factors on spermiogenesis process. The aim of present study was to estimate an influence industrial pollution on sperm morphogenesis and sperm DNA fragmentation in men from the general population of the Western Siberia. The Novosibirsk and Kemerovo cities are located to same climatic conditions in Western Siberia but the Kemerovo city is characterized by increased environmental pollution especially by particulate matter (PM). The male volunteers living in Novosibirsk (n = 278) and Kemerovo (n = 258) were enrolled. Percentages of sperm morphological defects are counted after staining native ejaculate smears by Diff-Quick kits. DNA fragmentation was estimated by a SCSA technique. The residents of Kemerovo were characterized by lowered sperm count and sperm motility, elevated DNA fragmentation, poor sperm morphology and increased incidence of morphological effects of head (pyriform, elongated, round, abnormal acrosome and vacuolated chromatine), asymmetrical neck insertion and excess residual cytoplasm. Moreover, elevated DNA fragmentation was associated with lowered sperm count, sperm motility and increased percentages of several sperm morphology defects, with the place of residence affecting the relationships between conventional semen parameters, sperm morphology and DNA fragmentations. Our study suggests that excessive sperm head elongation and impaired acrosome formation can contribute to sperm morphology deterioration in men from polluted areas. Regional features in the relationships between sperm morphology, sperm count and DNA fragmentation were shown, suggesting an importance of studying sperm morphology pattern in men from different regions.

Study the Morphometry of Fresh and Cryopreserved Murrah Bull Spermatozoa

Artificial insemination with frozen – thawed spermatozoa was introduced in most of the developing countries more than three decades ago, yet it has not been successfully applied in large scale (Anzar et al., 2003). More than 50% spermatozoa are usually injured by the cryopreservation process (Watson, 1995) injuries due to cryopreservation and more likely due to the increased solute concentration and the formation of intracellular and extracellular ice crystals during cryopreservation (Mazur, 1984) leading to a significant decline in semen quality and alterations in sperm morphometrix. Therefore, the present study was designed to study cryopreservation of buffalo semen and the effect of semen cryopreservation on determinant like semen fertility viz. sperm morphometry. Forty-eight semen samples collected from eight Murrah buffalo bulls maintained at Central semen station, Bhopal were included for the study of physic-morphological characters of neat and cryopreserved semen. Various measurements of the sperm head (length, width, base, ellipticity, elongation, head shape and area) and sperm tail (length of Midpiece and length of tail) were recorded in neat and cryopreserved semen. The average sperm measurements recorded were 7.24 ± 0.06, 4.26 ± 0.05, 2.65 ± 0.79, 11.92 ± 1.53, 43.12 ± 2.79, 61.97 ± 0.50, 25 ± 0.07, 19.13 ± 2.58, 0.59 ± 0.01, and 59.07 ± 0.94, respectively. There was a significant (P<0.05) decline of sperm head length, head width, midpiece length, tail length, total length and head area during the process of cryopreservation. However, no significant difference between width at base, ellipticity, head shape and elongation of the spermatozoa in neat and cryopreserved semen was recorded.

The testis-specific LINC component SUN3 is essential for sperm head shaping during mouse spermiogenesis

Sperm head shaping is a key event in spermiogenesis and is tightly controlled via the acrosome-manchette network. Linker of nucleoskeleton and cytoskeleton (LINC) complexes consist of Sad1 and UNC84 domain-containing (SUN) and Klarsicht/ANC-1/Syne-1 homology (KASH) domain proteins and form conserved nuclear envelope bridges implicated in transducing mechanical forces from the manchette to sculpt sperm nuclei into a hook-like shape. However, the role of LINC complexes in sperm head shaping is still poorly understood. Here we assessed the role of SUN3, a testis-specific LINC component harboring a conserved SUN domain, in spermiogenesis. We show that CRISPR/Cas9-generated Sun3 knockout male mice are infertile, displaying drastically reduced sperm counts and a globozoospermia-like phenotype, including a missing, mislocalized, or fragmented acrosome, as well as multiple defects in sperm flagella. Further examination revealed that the sperm head abnormalities are apparent at step 9 and that the sperm nuclei fail to elongate because of the absence of manchette microtubules and perinuclear rings. These observations indicate that Sun3 deletion likely impairs the ability of the LINC complex to transduce the cytoskeletal force to the nuclear envelope, required for sperm head elongation. We also found that SUN3 interacts with SUN4 in mouse testes and that the level of SUN4 proteins is drastically reduced in Sun3-null mice. Altogether, our results indicate that SUN3 is essential for sperm head shaping and male fertility, providing molecular clues regarding the underlying pathology of the globozoospermia-like phenotype.

Genetic relationships among sperm quality traits of Duroc boars collected during the summer season

The goals of the study were to estimate the heritability and repeatability of boar sperm quality traits during the summer season, estimate phenotypic and genetic correlations between sperm quality traits, and assess the effect of these traits on total number born (TNB). Semen samples were collected and individually processed from Duroc boars (n = 363) from May through October 2017. Single sire litter information was available for 121 of the boars. Heritability, repeatability, genetic correlations, and phenotypic correlations were estimated for and among the following traits: total percentage of motile cells (MOT), total percentage of progressively motile cells (PROG), percentage of cells with a distal droplet (DIST), percentage of cells with a proximal droplet (PROX), percentage of cells with a bent tail (BENT), percentage of cells with a distal midpiece reflex (DMR), mean sperm head elongation (ELON), and total sperm cells per ejaculate (TOTSP). Heritability estimates ranged from 0.08 to 0.24 and repeatability estimates ranged from 0.21 to 0.62. The phenotypic and genetic correlations between sperm motility traits and morphological defects indicated a negative relationship. Sperm morphological defects had positive phenotypic and genetic correlations with each other. Total sperm per ejaculate showed positive genetic correlations with the motility traits. Positive phenotypic and genetic correlations existed between ELON and the motility traits. Total sperm motility (P < 0.001) positively affected TNB while DIST (P < 0.001), PROX (P < 0.001), BENT (P = 0.05) and DMR (P = 0.002) negatively affected TNB. Results indicate genetic selection could enhance sperm quality during the summer season in boars.

The association between sperm head elongation and semen quality.

Previous studies suggested that sperm head shape may serve as an effective indicator of semen quality. However, there lacks research with large sample and quantitative measurement. The objective of this retrospective study was to explore the association between sperm head elongation (Width/Length ratio) and routine semen parameters. From January 2012 to December 2017, 63866 semen samples were collected from male subjects at 18-60years of age. Sperm head elongation and routine semen parameters (semen volume, sperm concentration, motility, etc.) were examined with computer-assisted semen analysis (CASA) systems in order to evaluate the association between elongation and semen quality. Logistic and linear regression models showed that the value of elongation is negatively correlated with sperm concentration, total sperm count, progressive motility, total motility, percentage of morphologically normal spermatozoa, and acrosin activity (all p<0.001). The results suggested that higher value of elongation is generally associated with higher risks of abnormality in semen quality. The importance of elongation may be explained by abnormal acrosin activity in the round-headed spermatozoa, which has been reported to cause failure of natural pregnancy. This study provides a new insight into the sperm head shape, which may be used as a complementary parameter in clinical semen examination and academic research.

155 Whole genome association analysis suggests an influence of inbreeding on bull sperm morphometry

Inbreeding depression, the genetic condition caused by mating related individuals, is particularly important in several cattle breeds with limited effective populations. This condition is often associated with decreases in performance, including fertility. Furthermore, sperm head morphometry was associated with fertility in several species. To our knowledge, the influence of inbreeding on sperm morphometry has not been widely reported in cattle. In this study, a Sperm Class Analyzer (SCA™, Microptic S.L., Barcelona, Spain) was used to characterise 7 sperm morphometry parameters in 59 Retinta bulls, including sperm head length, width, perimeter, ellipticity, elongation, regularity and rugosity. Two replicates of at least 100 sperm heads, from 2 frozen semen samples, were assessed per individual (n=200 sperm per bull). Additionally, all individuals were genotyped with the Axiom Bos1 high density SNP Array (Affymetrix, Santa Clara, CA, USA). The molecular-based inbreeding factor (FROH; mean 12.5%, range 1.75 to 33.0) had very low correlations with all sperm morphometry parameters. On average, sperm heads from bulls with higher FROH had a smaller area, but variability was high. Correlations between inbreeding and sperm shape were low and negative, length (r=−0.1449; P&amp;lt;0.01), width (r=−0.2494; P&amp;lt;0.01), and rugosity (r=−0.1086; P&amp;gt;0.01) being the most informative. Whole-genome association study (GWAS) analysis, performed using molecular inbreeding as co-factor, revealed 8 SNP, located on chromosomes BTA2, BTA5, BTA7, and BTA11, significantly associated with sperm head regularity and rugosity. Genomic analysis revealed that genes SLF1 and TMEFF2 are located close to enriched SNP. Gene SLF1 (SMC5-SMC6 complex localization factor 1) is associated with the regulation of protein complex and cytoskeleton assembly, whereas TMEFF2 (transmembrane protein with EGF like and 2 follistatin like domains 2) is associated with integral components of cell membrane and cell spreading and development. Therefore, we inferred that SLF1 and TMEFF2 may be involved in variations of sperm head shape. In this preliminary study, there was evidence of a potential influence of inbreeding on sperm morphometry in a beef cattle breed. However, additional studies, ideally including more individuals and additional breeds, are necessary to determine the validity of this potential association.

Spermiogram and sperm head morphometry assessed by multivariate cluster analysis results during adolescence (12-18 years) and the effect of varicocele.

This work evaluates sperm head morphometric characteristics in adolescents from 12 to 18 years of age, and the effect of varicocele. Volunteers between 150 and 224 months of age (mean 191, n = 87), who had reached oigarche by 12 years old, were recruited in the area of Barranquilla, Colombia. Morphometric analysis of sperm heads was performed with principal component (PC) and discriminant analysis. Combining seminal fluid and sperm parameters provided five PCs: two related to sperm morphometry, one to sperm motility, and two to seminal fluid components. Discriminant analysis on the morphometric results of varicocele and nonvaricocele groups did not provide a useful classification matrix. Of the semen-related PCs, the most explanatory (40%) was related to sperm motility. Two PCs, including sperm head elongation and size, were sufficient to evaluate sperm morphometric characteristics. Most of the morphometric variables were correlated with age, with an increase in size and decrease in the elongation of the sperm head. For head size, the entire sperm population could be divided into two morphometric subpopulations, SP1 and SP2, which did not change during adolescence. In general, for varicocele individuals, SP1 had larger and more elongated sperm heads than SP2, which had smaller and more elongated heads than in nonvaricocele men. In summary, sperm head morphometry assessed by CASA-Morph and multivariate cluster analysis provides a better comprehension of the ejaculate structure and possibly sperm function. Morphometric analysis provides much more information than data obtained from conventional semen analysis.

Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia.

The aim of this study was to provide a comprehensive genetic/phenotypic characterization of subjects suffering infertility owing to sperm macrocephaly (n = 3) or globozoospermia (n = 9) and to investigate whether the patients' genetic status was correlated with the alteration of various sperm parameters. AURKC was sequenced in case of sperm macrocephaly while the DPY19L2 status has been analyzed by multiple approaches including a novel qPCR-based copy number assay in case of globozoospermia. Globozoospermic patients were also analyzed for SPACA1, a novel candidate gene herein tested for the first time in humans. The effect of the patients' genetic status was interrogated by implementing the molecular screening with the characterization of several sperm parameters: (i) routine sperm analysis, integrated with transmission electron microscopy; (ii) sperm fluorescent in situ hybridization (FISH) analysis; (iii) sperm DNA fragmentation (DF) analysis. Moreover, for the first time, we performed microsatellite instability analysis as a marker of genome instability in men with sperm macrocephaly and globozoospermia. Finally, artificial reproductive technology (ART) history has been reported for those patients who underwent the treatment. Macrocephalic patients had an AURKC mutation and >89% tetraploid, highly fragmented spermatozoa. DPY19L2 was mutated in all patients with >80% globozoospermia: the two homozygous deleted men and the compound heterozygous showed the severest phenotype (90-100%). The newly developed qPCR method was fully validated and has the potential of detecting also yet undiscovered deletions. DPY19L2 status is unlikely related to FISH anomalies and DF, although globozoospermic men showed a higher disomy rate and DF compared with internal reference values. No patient was mutated for SPACA1. Our data support the general agreement on the negative correlation between macro/globozoospermia and conventional intracytoplasmic sperm injection outcomes. Microsatellites were stable in all patients analyzed. The comprehensive picture provided on these severe phenotypes causing infertility is of relevance in the management of patients undergoing ART.

DPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations

Globozoospermia, characterized by round-headed spermatozoa without acrosomes, is a rare and severe teratozoospermia causing primary male infertility. Homozygous DPY19L2 deletions have been identified as the main cause of globozoospermia, blocking sperm head elongation and acrosome formation. Several previous studies showed a very different prevalence of DPY19L2 gene deletions among globozoospermic patients in cohorts with different sample sizes and in different ethnic background. And all the patients previously analyzed were mainly of European, North African and Middle Eastern origins. So far, only 11 different point mutations of the DPY19L2 gene have been reported. To investigate the prevalence of DPY19L2 gene mutations in Chinese patients with globozoospermia and whether we can identify new sequence variants in this study, we recruited a total of 16 globozoospermic patients. Excluding one of two brothers, molecular analysis for deletions and mutations in the DPY19L2 gene was performed on 15 genetically independent individuals. Four of the 15 genetically independent patients with globozoospermia were homozygous for the DPY19L2 deletion, 5 were homozygous for a point mutation including a nucleotide deletion c.1532delA (two patients), a multi-mutation consisting of a nucleotide deletion c.1679delT and a two-nucleotide deletion c.1681_1682delAC (c.[1679delT; 1681_1682delAC]) (one patient), a recurrent missense mutation R290H (one patient) and a missense mutation L330P (one patient). One additional patient had a heterozygous deletion in one allele but with no mutation identified in another allele. Overall, 60% of the patients (9/15) have a sequence variant of DPY19L2 in both alleles. This study confirms that the DPY19L2 mutations are the major cause of globozoospermia. Three novel point mutations and a recurrent missense mutation were found in this study, further broadening the spectrum of DPY19L2 mutations.

Sperm motion characteristics of FecBBB and FecBB+ Garole x Malpura rams during the non-breeding season under hot semi-arid environment

A trial was conducted to assess the semen production potential of FecB gene carrier Garole x Malpura rams during the non-breeding season and to evaluate objectively their semen quality by computer-aided semen analysis (CASA) technique. Semen was collected from 4 homozygous (FecBBB) and 11 heterozygous (FecBB+) adult Garole x Malpura rams on 8 occasions twice in a week. The data derived from CASA estimates were subjected to repeated measures analysis. The overall means of traits which did not differ significantly with age or FecB genotyping were volume (0.6ml), mass motility (4.52), sperm concentration (3714.6×106/ml), motility (91.4%), rapid motile (83.0%), linearity (61.1%), curvilinear velocity (234.9μm/s), average path velocity (168.7μm/s), straight-line velocity (147.5μm/s), amplitude of lateral head displacement (6.93μm), sperm head elongation (48.8%) and sperm head area (6.96μm2). The age of rams had significant effect (P<0.05) on the percent straightness of spermatozoa, which was higher in young rams (<4yr) compared to old ones (>4yr). However, straightness was not significantly affected by the FecB status of semen donor rams. The results indicate that FecBBB and FecBB+ Garole x Malpura rams are capable of producing good quality semen during the non-breeding season in a hot semi-arid climate.

Absence of Dpy19l2, a new inner nuclear membrane protein, causes globozoospermia in mice by preventing the anchoring of the acrosome to the nucleus

Sperm-head elongation and acrosome formation, which take place during the last stages of spermatogenesis, are essential to produce competent spermatozoa that are able to cross the oocyte zona pellucida and to achieve fertilization. During acrosome biogenesis, acrosome attachment and spreading over the nucleus are still poorly understood and to date no proteins have been described to link the acrosome to the nucleus. We recently demonstrated that a deletion of DPY19L2, a gene coding for an uncharacterized protein, was responsible for a majority of cases of type I globozoospermia, a rare cause of male infertility that is characterized by the exclusive production of round-headed acrosomeless spermatozoa. Here, using Dpy19l2 knockout mice, we describe the cellular function of the Dpy19l2 protein. We demonstrate that the protein is expressed predominantly in spermatids with a very specific localization restricted to the inner nuclear membrane facing the acrosomal vesicle. We show that the absence of Dpy19l2 leads to the destabilization of both the nuclear dense lamina (NDL) and the junction between the acroplaxome and the nuclear envelope. Consequently, the acrosome and the manchette fail to be linked to the nucleus leading to the disruption of vesicular trafficking, failure of sperm nuclear shaping and eventually to the elimination of the unbound acrosomal vesicle. Finally, we show for the first time that Dpy19l3 proteins are also located in the inner nuclear envelope, therefore implying that the Dpy19 proteins constitute a new family of structural transmembrane proteins of the nuclear envelope.

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia

Do DPY19L2 heterozygous deletions and point mutations account for some cases of globozoospermia? Two DPY19L2 heterozygous deletions and three point mutations were identified, thus further confirming that genetic alterations of the DPY19L2 gene are the main cause of globozoospermia and indicating that DPY19L2 molecular diagnostics should not be stopped in the absence of a homozygous gene deletion. Globozoospermia is a rare phenotype of primary male infertility characterized by the production of a majority of round-headed spermatozoa without acrosome. We demonstrated previously that most cases in man were caused by a recurrent homozygous deletion of the totality of the DPY19L2 gene, preventing sperm head elongation and acrosome formation. In mammals, DPY19L2 has three paralogs of yet unknown function and one highly homologous pseudogene showing >95% sequence identity with DPY19L2. Specific amplification and sequencing of DPY19L2 have so far been hampered by the presence of this pseudogene which has greatly complicated specific amplification and sequencing. In this cohort study, 34 patients presenting with globozoospermia were recruited during routine infertility treatment in infertility centers in France and Tunisia between January 2008 and December 2011. The molecular variants identified in patients were screened in 200 individuals from the general population to exclude frequent non-pathological polymorphisms. We developed a Multiplex Ligation-dependent Probe Amplification test to detect the presence of heterozygous deletions and identified the conditions to specifically amplify and sequence the 22 exons and intronic boundaries of the DPY19L2 gene. The pathogenicity of the identified mutations and their action on the protein were evaluated in silico. There were 23 patients who were homozygous for the DPY19L2 deletion (67.6%). Only eight of the eleven non-homozygously deleted patients could be sequenced due to poor DNA quality of three patients. Two patients were compound heterozygous carrying one DPY19L2 deleted allele associated respectively with a nonsense (p.Q342*) and a missense mutation (p.R290H). One patient was homozygous for p.M358K, another missense mutation affecting a highly conserved amino acid. Due to the localization of this mutation and the physicochemical properties of the substituted amino acids, we believe that this variant is likely to disrupt one of the protein transmembrane domains and destabilize the protein. Overall, 84% of the fully analysed patients (n = 31) had a molecular alteration of DPY19L2. There was no clear phenotypic difference between the homozygous deleted individual, patients carrying a point mutation and undiagnosed patients. Globally poor fertilization rates are observed after intracytoplasmic sperm injection of round spermatozoa. Further work is needed to assess whether DPY19L2 mutated patients present a better or worse prognostic than the non-diagnosed patients. Evaluation of the potential benefit of treatment with a calcium ionophore, described to improve fertilization, should be evaluated in these two groups. In previous work, deletions of DPY19L2 had only been identified in North African patients. Here we have identified DPY19L2 deletions and point mutations in European patients, indicating that globozoospemia caused by a molecular defect of DPY19L2 can be expected in individuals from any ethnic background. None of the authors have any competing interest. This work is part of the project 'Identification and Characterization of Genes Involved in Infertility (ICG2I)' funded by the program GENOPAT 2009 from the French Research Agency (ANR).

A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation

An increasing number of couples require medical assistance to achieve a pregnancy, and more than 2% of the births in Western countries now result from assisted reproductive technologies. To identify genetic variants responsible for male infertility, we performed a whole-genome SNP scan on patients presenting with total globozoospermia, a primary infertility phenotype characterized by the presence of 100% round acrosomeless spermatozoa in the ejaculate. This strategy allowed us to identify in most patients (15/20) a 200 kb homozygous deletion encompassing only DPY19L2, which is highly expressed in the testis. Although there was no known function for DPY19L2 in humans, previous work indicated that its ortholog in C.elegans is involved in cell polarity. In man, the DPY19L2 region has been described as a copy-number variant (CNV) found to be duplicated and heterozygously deleted in healthy individuals. We show here that the breakpoints of the deletions are located on a highly homologous 28 kb low copy repeat (LCR) sequence present on each side of DPY19L2, indicating that the identified deletions were probably produced by nonallelic homologous recombination (NAHR) between these two regions. We demonstrate that patients with globozoospermia have a homozygous deletion of DPY19L2, thus indicating that DPY19L2 is necessary in men for sperm head elongation and acrosome formation. A molecular diagnosis can now be proposed to affected men; the presence of the deletion confirms the diagnosis of globozoospermia and assigns a poor prognosis for the success of invitro fertilization.

Failure of acrosome formation and globozoospermia in the wobbler mouse, a Vps54 spontaneous recessive mutant

The acrosome is a unique organelle that plays an important role at fertilization and during sperm morphogenesis and that is absent in globozoospermia, an inherited infertility syndrome in humans. At the light of recent experimental evidence, the acrosome is considered a lysosome-related organelle to whose biogenesis both the endocytic and biosynthetic pathways contribute. Vps54 is a vesicular sorting protein involved in the retrograde traffic; the recessive Vps54(L967Q) mutation in the mouse results in the wobbler phenotype, characterized by motor-neuron degeneration and male infertility. Here we have investigated the spatio-temporal occurrence/progression of the wobbler fertility disorder starting from mice at post-natal day 35, the day of the first event of spermiation. We show that the pathogenesis of wobbler infertility originates at the first spermiogenetic wave, affecting acrosome formation and sperm head elongation. Vps54(L967Q)-labeled vesicles, on the contrary of the wild-type Vps54-labeled ones, are not able to coalesce into a larger vesicle that develops, flattens and shapes to give rise to the acrosome. Evidence that it is the malfunctioning of the endocytic traffic to hamper the development of the acrosome comes out from the study on UBPy. UBPy, a deubiquitinating enzyme, is a marker of acrosome biogenesis from the endocytic pathway. In wobbler spermatids UBPy-positive endosomes remain single, scattered vesicles that do not contribute to acrosome formation. As secondary defect of wobbler spermiogenesis, spermatid mitochondria are misorted; moreover, with the progression of the age/disease also Sertoli-germ cell adhesions are compromised suggesting a derailment in the endocytic route that underlies their restructuring.

Actin-based dynamics during spermatogenesis and its significance

Actin can be found in all kinds of eukaryotic cells, maintaining their shapes and motilities, while its dynamics in sperm cells is understood less than their nonmuscle somatic cell counterparts. Spermatogenesis is a complicated process, resulting in the production of mature sperm from primordial germ cell. Significant structural and biochemical changes take place in the seminiferous epithelium of the adult testis during spermatogenesis. It was proved that all mammalian sperm contain actin, and that F-actin may play an important role during spermatogenesis, especially in nuclear shaping. Recently a new model for sperm head elongation based on the acrosome-acroplaxome-manchette complex has been proposed. In Drosophila, F-actin assembly is supposed to be very crucial during individualization. In this mini-review, we provide an overview of the structure, function, and regulation characteristics of actin cytoskeleton, and a summary of the current status of research of actin-based structure and movement is also provided, with emphasis on the role of actins in sperm head shaping during spermiogenesis and the cell junction dynamics in the testis. Research of the Sertoli ectoplasmic specialization is in the spotlight, which is a testis-specific actin-based junction very important for the movement of germ cells across the epithelium. Study of the molecular architecture and the regulating mechanism of the Sertoli ectoplasmic specialization has become an intriguing field. All this may lead to a new strategy for male infertility and, at the same time, a novel idea may result in devising much safer contraception with high efficiency. It is hoped that the advances listed in this review would give developmental and morphological researchers a favorable investigating outline and could help to enlarge the view of new strategies and models for actin dynamics during spermatogenesis.

Globozoospermia revisited

Globozoospermia is a rare (incidence <0.1%) but severe disorder in male infertility. Total globozoospermia is diagnosed by the presence of 100% round-headed spermatozoa lacking an acrosome. It is still unclear whether patients whose ejaculate contains both normal and globozoospermic cells (partial globozoospermia) suffer from a variation of the same syndrome. Apart from the fact that affected males suffer from reduced fertility or even infertility, no other physical characteristics can be associated with the syndrome. ICSI is a treatment option for these patients, although low fertilization rates after ICSI show a reduced ability to activate the oocyte. In globozoospermic cells, the use of acrosome markers has demonstrated an absent or severely malformed acrosome. Chromatin compaction appears to be disturbed but is not consistently over- or undercondensed. In some cases, an increased number of cells with DNA fragmentation have been observed. The analysis of the cytogenetic composition revealed an increased aneuploidy rate in some cases. Nonetheless, no increased number of spontaneous abortions or congenital defects has been reported in pregnancies conceived after ICSI. The pathogenesis of globozoospermia most probably originates in spermiogenesis, more specifically in acrosome formation and sperm head elongation. In several knockout mouse models, a phenotype similar to that in humans was found. Together with the occurrence of affected siblings, these findings indicate a genetic origin, which makes globozoospermia a good candidate for genetic analysis. More research is needed to elucidate the pathogenesis of human globozoospermia to further understand globozoospermia as well as (abnormalities in) spermiogenesis and spermatogenesis in general.

Sperm motion characteristics of Garole × Malpura sheep evolved in a semi-arid tropical environment through introgression of FecB gene

The arid and semi-arid tropical climates of India are endowed with vast diversity of non-prolific sheep breeds. The Garole × Malpura sheep has been evolved in a semi-arid tropical environment by introgression of FecB gene via artificial insemination of Malpura ewes using diluted semen of prolific microsheep Garole and subsequently multiplied by inter se mating among Garole × Malpura halfbreds. The aim of the present study was to identify FecB mutation in sexually mature Garole × Malpura rams by forced RFLP-PCR of BMPR-1B gene and evaluate: (i) semen production and sperm motion characteristics of GM rams and (ii) influence of age and FecB genotype on their semen attributes. Semen was collected during autumn season from 12 donor rams by artificial vagina on 8 occasions at weekly interval. The overall means of traits which did not differed significantly with age or FecB genotyping were volume (0.72 ml), mass motility (4.44), sperm concentration (2721.56 × 10 6 ml −1), curvilinear velocity (134.51 μm/s), motility (81.3%), amplitude of lateral head displacement (6.24 μm), beat frequency (44.43 Hz), sperm head elongation (48.9%) and sperm head area (10.01 μm 2). The FecB genotyping had a significant effect ( P < 0.05) on percent linearity and rapid motile sperms, which did not vary significantly with age. Although sperm concentration was higher in FecB BB and FecB B+, compared to FecB ++ genotypes but the effect was non-significant. The age and FecB genotyping had significant effects ( P < 0.05) on straightness, average path velocity, straight-line velocity and percentage of medium or slow motile sperms. It is concluded that Garole × Malpura rams with introgressed FecB gene are capable of producing good quality semen in a semi-arid tropical climate.

SEX-LINKED RECESSIVE LETHALS IN DROSOPHILA WHOSE EXPRESSION IS SUPPRESSED BY THE Y CHROMOSOME

A method was devised which allows the detection and recovery of sex- linked recessive letheals with lethal phenotype that is suppressed bp the Y chromosome, as well as onthodox lethals that are inviable with or without a Y. With doses of 3 and 4 kr, approximately 20% of all induced sex-linked recessive lethals survive in the presence of a Y chromosome and are consequently overlooked by currently used methods of lethal detection. The Y-suppressed lethals may be divided into two major classes. About one-eighth of them are deficiencies for the proximal heterochromatin, specifically for bb/sup +/, and they are suppressed by the Y because the Y carries the homologous region. The other seven-eighths are nearly all associated with gross rearrangements with at least one break point in the chromocentral heterochromatin and at least ore in the X. These are concluded to be variegated position-effect lethals. The V-type position-effect lethals may be further subdivided into one group that is male fertile and associated with X chromosome inversions or insertional translocations and another group that is male sterile and associated with reciprocal translocations with a break in the X and a break iu the chromocentral heterochronintin of chromasome 2 or 3. Themore » sterility of the reciprocal translocations is attributable to failure of sperm head elongation. It is postulated that continuity of the X chromosome plays an important role in normal spermiogenesis and that this continuity is disrupt by reciprocal translocation. (auth)« less