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Ursula Mittwoch

Publications and source records attributed to Ursula Mittwoch.

7 recordsLinked to original sources
PubMed2006

Sex determination in mythology and history.

The history of ideas on how the sexes became divided spans at least three thousand years. The biblical account of the origin of Eve, and the opinions of the philosophers of classical Greece, have unexpected bearings on present-day ideas. The scientific study of sex determination can be said to have begun in the 17th century with the discovery of spermatozoa, but the origin and function of the "spermatic animalcules" eluded investigators until 1841. The mammalian egg was discovered in 1827, and in the last quarter of the century fertilization was observed. The view current at that time, that sex determination was under environmental control, gave way to the idea of chromosomal determination in the first quarter of the 20th century. The study of human and other mammalian chromosomes during the third quarter of the century, and the discovery of sex-chromosome abnormalities, emphasized the importance of the Y chromosome for male sex determination. The last quarter of the century witnessed a hunt for the "testis-determining" gene, thought to be responsible for the differentiation of Sertoli cells, and culminating in the isolation of SRY (Sry in the mouse). However, an increasing number of additional genes and growth factors were found to be required for the establishment of male sex. During the same period evidence emerged that male development was accompanied by enhanced growth, both of gonads and whole embryos. An unexpected finding was the demonstration of temperature-dependent sex determination in reptiles. With the advent of the 21st century, it was shown that Sry induces cell proliferation in fetal mouse gonads, and it has been suggested that male sex differentiation in mammals requires a higher metabolic rate. These insights could lead to a better understanding and improved treatment of abnormalities of sexual development.

Female↗
PubMed2005

Sex is a threshold dichotomy mimicking a single gene effect.

The discovery of SRY ended the search for the male-determining gene, but the much sought after molecular pathway that connects the gene to its phenotype remains elusive. It is timely, therefore, to consider an alternative route of inheritance that can simulate mendelian segregation. The term "threshold dichotomy" is applied to contrasting phenotypes that have their origin in multiple genes with quantitative effects and are divided by a physiological threshold. I suggest that this mechanism provides a plausible basis for male development in mammals, which is known to depend on enhanced rates of cell proliferation in the developing embryo and can be expected to require increased levels of cellular energy. The system is affected by the genetic and environmental background. I also propose that the Y chromosome minimizes the effects of these variables on XY embryos so that, barring rare exceptions, the inheritance of sex resembles a single gene effect.

Chromosomes, Human, Y↗
PubMed2004

The elusive action of sex-determining genes: mitochondria to the rescue?

According to the accepted dogma of mammalian sex determination, the Y-linked gene SRY initiates male development by inducing hitherto uncommitted somatic cells of the fetal gonad to develop into Sertoli cells. However, it has become evident that the correct functioning of an increasing number of genes on other chromosomes is required for testicular organogenesis. They include the SRY-related gene, SOX9, which plays important roles in both sex determination and chondrogenesis, as well as genes responsible for the production of growth factors, i.e. fibroblast growth factor 9, platelet derived growth factor A, and the members of the insulin-receptor family of genes. It is known, moreover, that differences between the sexes begin to develop long before the differentiation of Sertoli cells, including an increase in gonadal size and cell proliferation, and accelerated development of XY embryos at early pre-implantation stages. There is also evidence of transcription of Y-linked, and of X-linked, genes and of an enhanced metabolic rate in XY embryos. Furthermore, the condition of true hermaphroditism does not fit into a simple genotype/phenotype relationship. The proposal that "testis-determining" genes act by increasing metabolic rates rather than directly determining Sertoli cell differentiation can account for a number of observations that do not fit the current model, including pregonadal sex differences, the activity of the same gene in different organ systems, and the frequent co-existence of sexual and somatic abnormalities. It also sheds light on the pervasive differences between metabolic rates of mammalian males and females, while the facts of true hermaphroditism can be viewed as remnants of temperature-dependent sex determination in ectothermic vertebrates. Growing interest in mitochondria, which play a central role in the provision of energy to eukaryotic cells, makes a shift of paradigm from gonadal histology to energy metabolism timely, particularly since new techniques have become available for testing the hypothesis, and for widening the experimental approach to sex determination. If the hypothesis is correct, it would mean that male sex is determined by nuclear genes inherited from the father regulating the activity of maternally derived mitochondria.

Animals↗
PubMed2003

Dolly, the so-called clone.

The word 'clone' is in the forefront of scientific terms that are familiar to the general public. But what exactly does it mean? Suprisingly, there is no simple answer, for different scientists are using the term for different entities.

Animals↗