Structural anomalies of the sex chromosomes provide a means to study the location of genes responsible for sex determination. Recently, a type of sex reversal in humans, the 46,XX male, was shown to result in some cases from translocation of Y chromosome material to the X chromosome. In the present report, another type of sex reversal, the 46,XY female, is shown to result, in two cases, from sm...

The rapid spread of a novel black form (known as carbonaria) of the peppered moth Biston betularia in 19th-century Britain is a textbook example of how an altered environment may produce morphological adaptation through genetic change. However, the underlying genetic basis of the difference between the wild-type (light-colored) and carbonaria forms has remained unknown. We have genetically mapp...

The presence or absence of the Y chromosome determines whether a mammalian embryo develops as a male or female. In humans, genetic deletion analysis of "sex-reversed" individuals has identified a small portion of the Y chromosome necessary and sufficient to induce testicular differentiation of the bipotential gonad. We report the cloning of a 230-kilobase segment of the human Y chromosome that ...

Abstract Immune responses during pregnancy need to be precisely regulated protect the fetus from microbial infections and maintain tolerance for semi-allogeneic fetus. However, mechanisms regulating fetal are not well understood. Recently we have identified KIR +CD8 +T cells as a previously unappreciated subset with regulatory functions in humans suppress harmful self-reactivity. Therefore, ask...

Zoonosis: what does it mean? The meaning of the term “Zoonosis” has changed greatly over the time. At least in the first half of the 19th century, early microscopes easily identified fungi, small animals, protozoans and metazoans: bacteria and viruses were much too small to be visualized. Hence, for more than a century, the term zoonosis indicated any disorder due to infectious agents visible b...

Linkage disequilibrium (LD) between densely spaced, polymorphic genetic markers in humans and other species contains information about historical population size. Inferring past population size is of interest both from an evolutionary perspective (e.g., testing the "out of Africa" hypothesis of human evolution) and to improve models for mapping of disease and quantitative trait genes. We propos...

PURPOSE Canine X-linked progressive retinal atrophy (XLPRA) is a hereditary, progressive retinal degeneration that has been mapped previously to the canine X chromosome in a region flanked by the dystrophin (DMD) and tissue inhibitor of metalloproteinase 1 (TIMP1) genes, and is tightly linked to the gene RPGR. The comparable region of the human X chromosome includes the disease locus for RP3, a...

The methodology and results of epidemiological studies of the effects of preconception diagnostic x-rays of the abdomen on chromosome segregation in humans are described. Many studies have been conducted in a number of different countries. The vast majority show the same positive, though not significant, trend to increased nondisjunction among the offspring of irradiated women. The results of t...

Introduction and Goals 19th century Europe was infested with diphteria, tuberculosis (TB), cholera and multiple infectious diseases. Cholera and TB are examples of diseases that had been deadly in the 19th century and declined rapidly independently of the discovery of medication. In particular, in the UK there was a shift from ubiquitous mortality to extremely low mortality from the mid-19th to...

Over half of the mature hepatocytes in mice and humans are aneuploid and yet retain full ability to undergo mitosis. This observation has raised the question of whether this unusual somatic genetic variation evolved as an adaptive mechanism in response to hepatic injury. According to this model, hepatotoxic insults select for hepatocytes with specific numerical chromosome abnormalities, renderi...