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PubMed2004

The dice of fate: the csd gene and how its allelic composition regulates sexual development in the honey bee, Apis mellifera.

Perhaps 20% of known animal species are haplodiploid: unfertilized haploid eggs develop into males and fertilized diploid eggs into females. Sex determination in such haplodiploid species does not rely on a difference in heteromorphic sex chromosome composition but the genetic basis has been elucidated in some hymenopteran insects (wasps, sawflies, ants, bees). In these species, the development into one sex or the others depends on an initial signal whether there is only one allele or two different alleles of a single gene, the complementary sex determiner (csd), in the zygotic genome. The gene has been most-recently identified in the honey bee and has been found to encode an arginine serine-rich (SR) type protein. Heterozygosity generates an active protein that initiates female development while hemizygosity/homozygosity results in a non-active CSD protein and default male development. I will discuss plausible models of how the molecular decision of male and female is made and implemented. Comparison to hierarchies of dipteran insects suggests that SR-type protein has facilitated the differentiation of sex-determining systems and hierarchies.

Alleles↗
PubMed2001

Regulation of male sexual development by Sry and Sox9.

Sry, a gene from the Y chromosome, is known to initiate testis formation and subsequent male differentiation in mammals. A related gene, Sox9, also plays a critical role in testis determination, possibly in all vertebrates. A number of models have been presented regarding the molecular modes of action of these two genes. However, details regarding their regulation, regulatory target genes, and interacting protein factors and co-factors have not been established with any certainty. In this review, we examine new evidence and re-examine existing evidence bearing on these issues, in an effort to build up an integrative model of the network of gene activity centred around Sry and Sox9. J. Exp. Zool. 290:463-474, 2001.

Animals↗
PubMed1984

Reproduction and sexual development in a freshwater gastrotrich. 2. Kinetics and fine structure of postparthenogenic sperm formation.

Spermatogenesis and spermiogenesis in Lepidodermella squammata are confined to the postparthenogenic phase of the life cycle and coincide with developmental changes in the bilateral female gonads. Male stages are bilateral but asynchronous, in the lateral abdomen anterior to the female gonads. Maximum observed sperm production is two packets per side, or 64 sperm. Sperm formation occurs more rapidly at 27 degrees C than at 20 degrees C (p less than 0.001), requiring as little as 1 day. Two spermatogonial mitotic divisions produce a clone of four primary spermatocytes connected by bridges (stage 1). Centrioles are absent. Development occurs within a cyst. Meiotic divisions produce 16 spermatids (stage 2), each containing a dense, elongate, tapered nucleus. Cytoplasmic membranes enclose one end of the nuclear rod, excluding all other organelles. Completion of this process results in stage 3, a packet of 16 sperm associated with one dense sphere, a modified 'residual body' containing cytoplasmic debris. The residual body then disappears, leaving the sperm packet of stage 4. Each mature sperm is a dense nuclear rod with surrounding membranes, lacking acrosome, mitochondrion, centrioles, and flagellum. Function of sperm has not been demonstrated. The spermatozoa are of a reduced type not previously described.

Animals↗
PubMed1984

Reproduction and sexual development in a freshwater gastrotrich. 3. Postparthenogenic development of primary oocytes and the X-body.

Six small cells are present in each of the bilateral gonads of parthenogenically reproductive Lepidodermella squammata. Early in the extended postparthenogenic phase of the life history, these cells undergo limited proliferation followed by differentiation. Primary oocytes of three types are present 0.3 days after deposition of the final parthenogenic egg: small oocytes with presynaptic nuclei; intermediate oocytes with nuclei containing synaptonemal complexes; and larger oocytes with a germinal vesicle. Oocytes persist without further development at least until day four of the postparthenogenic phase. Older isolated animals may contain and even deposit an enlarged egg, but successful progeny does not result. Oocytes are located at the anterior pole of each of the bilateral gonads, adjacent to developing male tissues producing sperm. More posterior cells in the gonad are initially undifferentiated in the postparthenogenic phase. Dorsal and central cells first show specialization for secretory activity, and by day four contain peripheral layers of RER and central accumulations of polymorphic secretion droplets. The posterior and ventral cells produce secretion droplets that aggregate into an enlarging bilobed structure called the X-body. Two or three cells in each gonad contribute secretions to the X-body, which is intracellular in a secondary syncytium formed by the contributing cells. Functions for the postparthenogenic gametes and for the X-body are not yet demonstrated.

Animals↗
PubMed1995

Two novel genes involved in the sexual development of Schizosaccharomyces pombe.

We isolated two sterile mutants of Schizosaccharomyces pombe. One of them was mapped close to ste13 (8 cM). Since it turned out to be allelic with the hitherto unmapped ral2, its linkage with ste13 localizes ral2 on the right arm of chromosome II. The other mutant defines a novel class-I ste gene, ste15, closely linked to ste7 (4 cM) on chromosome I. ste15 is conjugation-specific and acts upstream of pat1 and ras1. During its genetic analysis, a phenotypic suppression of ste12-N9 was observed which was caused by mutations in the unlinked gene ssw1.

Epistasis, Genetic↗
PubMed1977

[Contributions to the life-cycle of Frenkelia. III. The sexual development of F. clethrionomyobuteonis in the buzzard (author's transl)].

8 buzzards (Buteo buteo) were infected orally with cysts of Frenkelia clethrionomyobuteonis of the bank vole (Clethrionomys glareolus). Their intestines were searched for developmental stages of Frenkelia 21 and 24 h and 2, 3, 4, and 5 days post infection. After 21 and 24 h male and female gamonts could be detected within epithelial cells of the villi of the first half of the small intestine. The microgamonts contained 10-14 microgametes. The macrogamonts which measured on an average 11,1 X 9,8 mum in Giemsa stained smears developed into very thin-walled oocysts measuring in fresh preparations on an average 15,8 X 11,7 mum on day 3 after infection. The oocysts were located between the lamina propria and the epithelial lining of the distal third of the villi. They began to sporulate on day 5 and the first sporocysts were excreted 7 and 8 days post infection. Schizonts and schizont-like stages could not be observed in the developmental cycle in Buteo buteo.

Animals↗
PubMed1996

The G protein beta subunit Gpb1 of Schizosaccharomyces pombe is a negative regulator of sexual development.

A Schizosaccharomyces pombe homolog of mammalian genes encoding G protein beta subunits, gpb1+, was cloned by the polymerase chain reaction using primer pairs that correspond to sequences conserved in several G beta genes of other species followed by screening of genomic and cDNA libraries. The gpb1 gene encodes 317 amino acids that show 47% homology with human G beta 1 and G beta 2 and 40% homology with Saccharomyces cerevisiae G beta protein. Disruption of the gpb1 gene indicated that this gene is not required for vegetative cell growth. However, gpb1-disrupted haploid cells mated and sporulated faster than wild-type cells, both in sporulation (MEA) and in complex medium (YE): when examined 23 h after transfer to sporulation medium, 35% of gpb1-disrupted haploid pairs had undergone conjugation and sporulation, whereas only 3-5% of wild-type haploid pairs had done so. Overexpression of the gpb1 gene suppressed this facilitated conjugation and sporulation phenotype of gpb1-disrupted cells but did not cause any obvious effect in wild-type cells. Co-disruption of one of the two S. pombe G alpha-subunit genes, gpa2, in the gpb1-disrupted cells did not change the accelerated conjugation and sporulation phenotype of the gpb1- cells. However, co-disruption of the ras1 gene abolished the gpb1- phenotype. These results suggest that Gpb1 is a negative regulator of conjugation and sporulation that apparently works upstream of Ras1 function in S. pombe. The possible relationship of Gpb1 to two previously identified, putative G alpha proteins of S. pombe is discussed.

Amino Acid Sequence↗
PubMed1986

Spontaneous sexual development and menarche in a female with 17 alpha-hydroxylase deficiency.

Case report of a 46-year-old female with clinical and laboratory findings typical for 17 alpha-hydroxylase deficiency who had spontaneous menarche and thereafter regular menses until the age of 28, when menstruation stopped after right and left ovariectomy at the age of 27 and 28 yr, respectively. Common and electron microscopy study of one (left) excised adrenal showed no recognizable histological zones, nodular hyperplasia of the cells found normally in the zona fasciculata and complete absence of the cells of the zona glomerulosa. Treatment of hypertension with spironolactone (for 20 days) and aminoglutethimide (for 15 days) was ineffective, while glucocorticosteroid treatment was highly successful.

Adrenal Glands↗
PubMed2001

The Aalpha6 locus: its relation to mating-type regulation of sexual development in Schizophyllum commune.

We have isolated and examined the Aalpha6 mating-type locus of Schizophyllum commune as a first step toward resolving a functional difference between this locus and the Aalpha loci previously studied. Our analyses show Aalpha6 to be remarkably similar to the Aalpha loci of known structure. The locus is composed of two, divergently transcribed genes similar in size to known Z and Y genes of the Aalpha loci. We have termed the two genes, Z6 and Y6, on the basis of their demonstrated mating activities and encoded protein motifs. The Z6 gene encodes a homeodomain-related sequence, two acidic regions and a predicted coiled-coil motif. The Y6 gene encodes a homeodomain, predicted coiled-coil motif, two regions with homology to the Abeta locus gene V6, a basic region encoding a putative nuclear localization sequence and a serine-rich region. The Z6 and Y6 proteins share these features with the other known Z and Y proteins, respectively. One of the two amino acid sequences with homology to the AbetaV6 protein has not previously been reported.

Amino Acid Sequence↗
PubMed1999

Defective sexual development in an infant with 46, XY, der(9)t(8;9)(q23.1;p23)mat.

UNLABELLED: We report on a male infant with ambiguous genitalia (scrotal hypospadias, sinus urogenitalis) trisomic for 8q23-ter and monosomic for 9p23-ter, who shared craniofacial and other abnormalities with either phenotype. Gonadal histology was nearly normal for age. Normal endocrinological findings and exclusion of mutations in SRY, androgen receptor and alpha-reductase genes point to supplementary gene(s) located in 9p2305-ter, haplo-insufficiency (by deletion) of which is expected to cause defective male morphogenesis. CONCLUSION: This observation lends further support to the hypothesis that genetic factors are located at 9p23-ter which are involved in normal sex determination.

Abnormalities, Multiple↗
PubMed1981

Delayed sexual development: a study of 252 patients.

A series of 252 patients with abnormalities of pubertal development are reported. Ovarian failure, followed by Rokitansky syndrome and then physiologic delay, are the most frequently encountered etiologies. Other etiologies are diverse and numerically less frequent. The average age of presentation, patient's height, somatic anomalies, diagnostic errors, and subsequent reproductive potential of each diagnostic group are reported. Only 35 (14%) of all patients presenting with abnormalities of pubertal development had subsequent normal reproductive potential. All of these patients were in the physiologic delay category.

Adolescent↗