Polysyndactyly, a new mutant gene in the mouse

Endotoxin, the lipopolysaccharide (LPS) ~ obtained from the cell wall of gram-negative bacteria, elicits many physiological responses in mammals (1). The large number and diversity of these endotoxic reactions to LPS have made it difficult to analyze the control mechanisms involved. In particular, it has been impossible to determine whether most or all of these diverse responses to LPS are regulated by the expression of common genetic loci. In this paper we compare the genetic control of a number of endotoxic responses which appear to result from the interaction of LPS with B lymphocytes in mice, to responses involving different cell types.The C3H/HeJ mouse strain is unique in its resistance to many of the effects of LPS observed in other mouse strains (2-9). ~ These include resistance to the mitogenic, polyclonal, and adjuvant effects of LPS (4-9), 2 which all appear to result from the interaction of LPS with bone marrow-derived (B) lymphocytes (4, 5), as well as to a variety of other effects such as toxicity (3), resistance to bacterial infectious (10), macrophage activation (10, 11), and increases in levels of various serum components such as colony-stimulating factor (CSF) (12), and the acute phase serum amyloid protein, SAA (13). LPS elicits several different types of responses in murine B lymphocytes. LPS induces the nonproliferative expression of cell surface antigens in more immature B-cell types (14, 15), and a mitogenic response in more mature B-cell types (2-9). 2 B lymphocytes from C3H/HeJ mice are unresponsive in both of these LPS response assays (16). The implication from all of these observations is that the defective gene in C3H/HeJ mice that limits LPS responsiveness in these various assay systems is involved in the expression of a receptor found in many different cell types. 2 However, there are no genetic studies that directly show that the loci responsible for the defective LPS responses of different cell types in C3H/HeJ, are in fact identical.The low responsiveness to LPS of C3H/HeJ mice is determined by a single gene linked to Mup-1 on chromosome 4 in mice.

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A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?

Akarsu

Akhan

Sayli

et al. 1995

Journal of Medical Genetics

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Syndactyly type II (synpolydactyly (SPD)) is an autosomal dominant condition with typical abnormalities of the distal parts of both upper and lower limbs. We report here a previously undescribed phenotypic feature ofpeople with severe hand and foot deformities who were born to two affected parents. This is the first example of SPD subjects manifesting a very distinctive phenotype, suggesting that they must be homozygous for this condition. The typical characteristic clinical features in these subjects are as follows: (1) short hands with wrinkled fatty skin and short feet; (2) complete soft tissue syndactyly involving all four limbs; (3) polydactyly of the preaxial, mesoaxial, and postaxial digits of the hands; (4) loss of the normal tubular shape of the carpal, metacarpal, and phalangeal bones, so as to give polygonal structures; (5) loss of the typical structure ofthe cuboid and all three cuneiform bones while the talus calcaneus and navicular bones remain intact; (6) large bony islands instead of metatarsals, most probably because of cuboid-metatarsal and cuneiform-metatarsal fusions; and (7) severe middle phalangeal hypoplasia/aplasia as well as fusion of some phalangeal structures that are associated with the loss of normal phalangeal pattern. We report seven subjects with this phenotype from three different branches of a very large SPD pedigree exhibiting the same phenotype with minimal variation. In mice, the Polysyndactyly (Ps) mutation shows a pattern of synpolydactyly very similar to that of human SPD, suggesting that they may well be homologous mutations. A molecular genetic study is currently under way to determine the chromosomal location of the SPD locus in humans and to identify the corresponding homologous region in mice. (J Med Genet 1995;32:435-441)

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Polysyndactyly, a new mutant gene in the mouse

Cited by 4 publications

References 4 publications

Mouse chromosome 4

Mouse chromosome 4

Genetic control of endotoxic responses in mice.

A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?

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