Study of aneuploidy in large-headed, multiple-tailed spermatozoa: case report and review of the literature

Perrin, A.; Morel, Frédéric; Moy, L.; Colleu, D.; Amice, V.; Braekeleer, Marc De

doi:10.1016/j.fertnstert.2007.09.013

Cited by 42 publications

(34 citation statements)

References 44 publications

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“…In addition to reduced testis weight and sperm density, F 1 hybrid males from M. m. musculus PWD mothers presented abnormal sperm types similar to those previously connected with sterility. Abnormal sperm head shapes often arise as byproducts of aneuploidy (Prisant et al 2007;Perrin et al 2008;Revay et al 2009). In rodents, alterations of the sperm hook are correlated with decreases in fertilization success (Immler et al 2007;Firman and Simmons 2009), and severely amorphous sperm heads are inefficient at penetrating the ova (Krzanowska and Lorenc 1983;Oka et al 2007;Styrna 2008).…”

Section: Discussionmentioning

confidence: 99%

Genetic Dissection of a Key Reproductive Barrier Between Nascent Species of House Mice

et al. 2011

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Reproductive isolation between species is often caused by deleterious interactions among loci in hybrids. Finding the genes involved in these incompatibilities provides insight into the mechanisms of speciation. With recently diverged subspecies, house mice provide a powerful system for understanding the genetics of reproductive isolation early in the speciation process. Although previous studies have yielded important clues about the genetics of hybrid male sterility in house mice, they have been restricted to F 1 sterility or incompatibilities involving the X chromosome. To provide a more complete characterization of this key reproductive barrier, we conducted an F 2 intercross between wild-derived inbred strains from two subspecies of house mice, Mus musculus musculus and Mus musculus domesticus. We identified a suite of autosomal and X-linked QTL that underlie measures of hybrid male sterility, including testis weight, sperm density, and sperm morphology. In many cases, the autosomal loci were unique to a specific sterility trait and exhibited an effect only when homozygous, underscoring the importance of examining reproductive barriers beyond the F 1 generation. We also found novel two-locus incompatibilities between the M. m. musculus X chromosome and M. m. domesticus autosomal alleles. Our results reveal a complex genetic architecture for hybrid male sterility and suggest a prominent role for reproductive barriers in advanced generations in maintaining subspecies integrity in house mice.

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Section: Discussionmentioning

confidence: 99%

Genetic Dissection of a Key Reproductive Barrier Between Nascent Species of House Mice

et al. 2011

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“…Using fluorescent in situ hybridization (FISH), several investigators found no association between the frequency of morphologically and chromosomally abnormal sperm [8,9], except in macrozoospermia [5]. In 1996, Yurov et al found in an infertile man that 40 % of his spermatozoa were large headed.…”

Section: Meiotic Segregation Studiesmentioning

confidence: 99%

“…When all the spermatozoa display a unique abnormality, teratozoospermia is said to be monomorphic. Two forms of monomorphic teratozoospermia are recognized: macrozoospermia (also called macrocephalic sperm head syndrome) and globozoospermia (also called round-headed sperm syndrome) [5,6]. They are the subject of this review.…”

Section: Introductionmentioning

confidence: 99%

Genetic aspects of monomorphic teratozoospermia: a review

Braekeleer

Nguyen

Morel

et al. 2015

J Assist Reprod Genet

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113

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Teratozoospermia is characterized by the presence of spermatozoa with abnormal morphology over 85 % in sperm. When all the spermatozoa display a unique abnormality, teratozoospermia is said to be monomorphic. Two forms of monomorphic teratozoospermia, representing less than 1 % of male infertility, are recognized: macrozoospermia (also called macrocephalic sperm head syndrome) and globozoospermia (also called round-headed sperm syndrome). Macrozoospermia is defined as the presence of a very high percentage of spermatozoa with enlarged head and multiple flagella. Meiotic segregation studies in 30 males revealed that over 90 % of spermatozoa were aneuploid, mainly diploid. Sperm DNA fragmentation studies performed in a few patients showed an increase in DNA fragmentation index compared to fertile men. Four mutations in the AURKC gene, a key player in meiosis and more particularly in spermatogenesis, have been found to be responsible for macrozoospermia. Globozoospermia is characterized by round-headed spermatozoa with an absent acrosome, an aberrant nuclear membrane and midpiece defects. The rate of aneuploidy of various chromosomes in spermatozoa from 26 globozoospermic men was slightly increased compared to fertile men. However, this increase was of the same order as that commonly found in infertile men with altered sperm parameters. The majority of the studies found that globozoospermic males had a sperm DNA fragmentation index higher than in fertile men. Mutations or deletions in three genes, SPATA16, PICK1 and DPY19L2, have been shown to be responsible for globozoospermia. Identification of the genetic causes of macrozoospermia and globozoospermia should help refine diagnosis and treatment of these patients, avoiding long and painful treatments. Elucidating the molecular causes of these defects is of utmost importance as intracytoplasmic sperm injection (ICSI) is very disappointing in these two pathologies.

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“…would account for the high proportion of macrocephalic sperm with multiple tails reported in various animals and man [19,20,[29][30][31]46]. On the other hand, as suggested by several authors [27,31,50], abnormal cycles of centriole formation would similarly result in multiflagellate sperm.…”

Section: Discussionmentioning

confidence: 93%

“…The occurrence of multiflagellate sperm has been reported in a number of mammalian species including the stallion [17,18], bull [19,20], boar [21][22][23] and dog [24], as well as in man [25][26][27][28][29][30]. This anomaly is characterised by the presence of two or more flagella and is considered a rare condition which adversely influences sperm motility and therefore fertility [19,26,27].…”

Section: Introductionmentioning

confidence: 99%

Structural peculiarities associated with multiflagellate sperm in the emu, Dromaius novaehollandiae

Plessis

Soley

2012

Theriogenology

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Multiflagellate sperm represent a rare defect in mammals and also in the emu where an incidence of only 1% multiflagellate sperm was recorded in semen samples from 15 birds. Biflagellate sperm were the most frequent form of the defect observed, but 3-to 5-tailed sperm were also noted. An association was apparent between multiple tails and macrocephalic sperm which accounted for 0.6% of multiflagellate sperm. Structural features of the defect were generally similar to those seen in mammals. The duplicated tails shared a single midpiece which housed supernumerary centriolar complexes, each surrounded by a mitochondrial sheath. A single row of mitochondria separated adjacent centriolar complexes. Elements of the connecting piece (segmented columns, capitellum) appeared normal. The nuclear base appeared flat, staggered or scalloped depending on the number 2 and depth of additional implantation fossae. Multiflagellate emu sperm of normal head dimensions displayed a widened nuclear base (in the form of an attenuated peripheral nuclear extension) to accommodate the attachment of the additional centriolar complexes. Defective mammalian sperm do not show this modification of the nuclear base as the inherently wider sperm head is able to accommodate the supernumerary centrioles. Although often spiraled around each other, the duplicated principal pieces of the tail were generally separated and free. However, in some cells the proximal parts were collectively bound within the plasmalemma. Multiflagellate sperm appear to have a dual origin with some defective cells originating from incomplete cytokinesis and others as a result of abnormal centriolar duplication.

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Study of aneuploidy in large-headed, multiple-tailed spermatozoa: case report and review of the literature

Cited by 42 publications

References 44 publications

Genetic Dissection of a Key Reproductive Barrier Between Nascent Species of House Mice

Genetic Dissection of a Key Reproductive Barrier Between Nascent Species of House Mice

Genetic aspects of monomorphic teratozoospermia: a review

Structural peculiarities associated with multiflagellate sperm in the emu, Dromaius novaehollandiae

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