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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The XO sex chromosome constitution has been found in both sexes of the mole-vole (Ellobius lutescens) belonging to the rodent family Microtinae. This enigmatic species has apparently been enduring a 50% zygotic lethality. The current serological study revealed the presence in XO males and the absence from XO females of H-Y (histocompatibility Y) antigen. In all the mammalian species studied thus far, the expression of H-Y antigen strictly coincided with the presence of testicular tissue and not necessarily with the presence of the Y chromosome. The testis-organizing function of the H-Y gene appears to have been confirmed. In the mole-vole, X linkage of the testis-organizing H-Y gene is favored over its autosomal inheritance. Only X linkage of the H-Y gene creates a compelling evolutionary need to change the female sex chromosome constitution from XX to XO, and to abandon the dosage compensation by an X inactivation mechanism, so that the nonproductive XH-YX zygote can be eliminated as an embryonic lethal. With regard to the electrophoretic mobilities of three X-linked marker enzymes, however, a genetic difference between the male-specific XH-Y and the female-specific X was not detected. This might reflect a relatively recent speciation.
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PMID:Testis-determining H-Y antigen in XO males of the mole-vole (Ellobius lutescens). 86 27

A probable role of heterochromatin variation in male meiosis has been evaluated using fertile and infertile Indian mole rat males (Nesokia) with polymorphic X and/or Y chromosomes. A comprehensive study of tubular histology, meiotic progression, and X-Y chromosome pairing was undertaken. Despite heterochromatin variation, spermatogenesis was found to be complete in all individuals. Patterns of X-Y synaptonemal complex pairing varied considerably from extensive synapsis in individuals with a normal heterochromatin complement, through end-to-end synapsis, to X and Y univalents in those with different degrees of loss of heterochromatin. Changes in the gonadal histology corresponding to heterochromatin variation were also observed. Loss of some coding DNA sequences in polymorphic X-chromosomes otherwise located at specific sites in the X-chromosome heterochromatin have been linked directly to modifications of the reproductive process. This is thought to be mediated by an altered X-chromosome activity during spermatogenesis or regulation of other locus/loci involved in fertility or reproduction.
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PMID:Heterochromatin variation and spermatogenesis in Nesokia. 280 18

Now that we know about the genetic production mechanisms of diseases of the trophoblast, interest is concentrated on the question which risk factors can produce a disposition in the patient - seen from a clinico-genetic angle - towards malignancy of a complete mole. Many years before the genetic interrelations became known, there had been discussions on blood relationship as a possible aetiological factor in the production of chorionic carcinoma. Since consanguinity in preceding generations can lead to a selection of certain genotypes, this question was reexamined on a limited patients material (10 patients with chorionic carcinoma and 11 with mole). The negative result of this study contradicts - similar to other recent publications on this subject - the hitherto frequently advanced hypothesis that homozygotism is responsible, for a recessive "onko" gen, for rendering a complete mole malignant. Recent investigations, for example, point to a close correlation between the presence of a Y chromosome in a complete mole, and malignancy.
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PMID:[Are there genetic risk factors in the occurrence of choriocarcinoma?]. 384 30

Complete hydatidiform mole has a substantial risk of developing persistent gestational trophoblastic disease (PTD). Whether heterozygous complete moles, arising from dispermy, have a higher risk of such progression than their homozygous counterparts is controversial. In this study, the frequency of heterozygous XY complete mole in 93 consecutive cases of histologically proven complete moles managed in Hong Kong was assessed by the technique of chromosome in situ hybridization (CISH) using DNA probes specific for the short arm of the Y chromosome. The incidence of Y-chromosome positive complete mole in the groups of patients with spontaneous remissions and the group with PTD with or without metastasis was also compared. The presence of Y chromosome was identified in 6 of the 93 cases (6.5%), and this incidence fell within the range reported in the world literature. Of these 93 patients, 5 patients defaulted follow-up, while 10 patients developed PTD, with evidence of metastasis in 2 of them. The presence of Y chromosome was also assessed in another 15 patients with documented metastatic PTD. It was found that CISH signals for Y chromosome were identified in 5.1% (4/78) of complete moles with spontaneous remission and 8% (2/25) with PTD with or without metastasis (P > 0.05). Y chromosome was detected in 5.9% (1/17) of the complete moles that developed metastasis and in 5.8% (5/86) of the complete moles that either developed spontaneous remission or developed nonmetastatic PTD (P > 0.05). There is no correlation between the presence of Y chromosome and development of persistent gestational trophoblastic disease.
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PMID:Detection of heterozygous XY complete hydatidiform mole by chromosome in situ hybridization. 783 78

We investigated the origin of XX sex reversal in the insectivorous mole Talpa occidentalis. Cytogenetic, histological and hormonal studies indicate that all XX individuals analyzed from two different populations are true hermaphrodites, with ovotestes. This suggests that XX sex reversal may be the norm in this species. The intersexes are functional fertile females and the trait is transmitted and maintained in the population. Intersexes lack the Y chromosome gene SRY (sex determining region Y gene), shown to be the testis determining gene. These results suggest that XX intersex moles may have arisen from a mutation of a gene located downstream from SRY/TDY in the testis determining pathway.
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PMID:Fertile females of the mole Talpa occidentalis are phenotypic intersexes with ovotestes. 826 56

In mammals, sex determination is controlled by the Y-linked gene SRY. Although SRY is male-specific in most eutherian and marsupial species, with a single copy on the Y chromosome, several rodent species have multiple Y-linked copies of SRY, and two mole-vole species of the genus Ellobius determine sex without the Y chromosome or the SRY gene. We searched for homologs of SRY in three vole species of the genus Microtus and concluded that this gene is not male-specific in M. cabrerae, as it is present in multiple, polymorphic copies in both males and females. In contrast, SRY is male-specific in the related species M. agrestis and M. nivalis. Up to 15 different partial sequences of the SRY gene were found in M. cabrerae. Southern blots suggest that most of the extra copies of SRY are X-linked. One of the copies observed only in males has a sequence identical to that of the SRY gene in M. agrestis and may represent a functional copy of the gene in this species. The rest are probably nonfunctional pseudogenes.
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PMID:Multiple, polymorphic copies of SRY in both males and females of the vole Microtus cabrerae. 960 42

The mammalian Y chromosome has been known for a long time to harbour a gene that triggers testis determination, and this testis-determining factor was identified as SRY in 1990. It has been supposed that SRY was the original mammalian sex-determining gene that initiated the differentiation of the Y from the X early in mammalian evolution, and this belief has been reinforced by an analysis of divergence times. However, I will argue here that SRY evolved quite recently in therian mammals and was not the original mammalian sex-determining gene that defined the X and Y. It arose as a degraded version of the X-borne SOX gene that is better qualified to be a brain-determining gene. It has no central role in sex determination, and can be replaced as a trigger and lost, as have many other Y-borne genes in recent evolutionary history. The mole vole has evidently accomplished this.
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PMID:Evolution of the testis-determining gene--the rise and fall of SRY. 1199 Aug

In mammals, sex is determined by an XY male:XX female sex chromosome system in which a male-dominant gene on the Y chromosome (SRY) determines testis formation. Sex chromosomes evolved from an ordinary autosome pair as the Y chromosome was progressively degraded. The Y chromosome has lost nearly all of its 1500 original genes, and those that survived did so because they evolved a critical role in male determination or differentiation. SRY is typical of Y-borne genes. Comparative gene mapping and sequencing shows that SRY arose quite recently as a degraded version of the SOX3 gene on the X chromosome. SOX3 is expressed predominantly in brain, and so is more likely to be a brain-determining than a testis-determining gene. The male-dominant action of SRYmay be an illusion, as its structure suggests that it works by interfering with the action of a related gene, which in turn inhibits testis development. This hypothesis can give a good account of how a brain-determining gene acquired a role in testis determination via differential dosage of SOX3. SRYhas no central role in sex determination and it can be replaced as a trigger and loft, as have many other Y-borne genes in recent evolutionary history. The absence of SRY in two species of the mole vole (Ellobius) suggests that its useful life is already running out.
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PMID:From brain determination to testis determination: evolution of the mammalian sex-determining gene. 1199 19

Breus' mole (massive subchorionic hematoma) is a rare entity most often found in the placentae of macerated stillborn fetuses. Previously considered to represent a postmortem event, recent evidence suggests that it occurs prior to fetal demise. A 23-week gestation male neonate was delivered of a 23-year-old gravida 3, para 2 woman and survived for 49 min. An autopsy with chromosomal studies resulted in a diagnosis of triploidy. Placental examination showed the presence of both Breus' mole and also partial hydatidiform mole. DNA samples extracted from portions of the fresh hematoma and from the fetal spleen were compared using molecular techniques. PCR analysis showed the presence of Y chromosome specific DNA in the placental clot, but a semiquantitative Southern blot demonstrated that roughly 85% of the clot DNA was of maternal origin. These findings suggest that Breus' mole represents primarily maternal thrombosis rather than fetal hemorrhage. We hypothesize that the partial mole could have contributed to the formation of the Breus' mole as some of the hydropic villi may have focally obstructed the maternal venous return from the intervillus space causing sluggish flow and promoting thrombosis. A review of the literature on Breus' mole shows that the majority of reported cases have not included cytogenetic findings. However, several authors have reported an association with triploidy and other chromosomal anomalies characterized by scattered placental hydropic villi. Thus, we suggest that obstruction of maternal venous return by hydropic villi may have played a contributory role in some of these other reported cases.
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PMID:Association between Breus' mole and partial hydatidiform mole: chance or can hydropic villi precipitate placental massive subchorionic thrombosis? 1239

Weird mammals are of two types. Highly divergent mammals, such as the marsupials and monotremes, have informed us of the evolutionary history of the Y chromosome and sex-determining gene, and the recently specialized rodents can help us predict its future. The Y chromosome has had a short but eventful history, and is already heading briskly for oblivion. It originated as a homologous partner of the X when it acquired a sex-determining gene (not necessarily SRY). Most of the genes on the Y, even those with a male-specific function, evolved from genes now on the X. At the mercy of a high rate of variability and the forces of drift and selection, the Y has lost genes at a rate of 3-6 genes/million years, sparing those that acquired critical male-specific functions. Even these genes have disappeared from one mammalian lineage or another as their functions were usurped by genes elsewhere in the genome. The mammalian testis-determining gene, SRY, is a typical Y-borne gene. It arose by truncation of a gene (SOX3) on the X that is expressed in brain development, and it may work by interacting with (inhibiting?) related genes, including SOX9. Variant sex-determining systems in rodents show that the action of SRY can change, as it evidently has in the mouse, and SRY can be inactivated, as in akodont rodents, or even completely superseded, as in mole voles.
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PMID:Sex chromosomes and sex determination in weird mammals. 1243 93


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