Single Autosomal Gene Research Articles

Evidence for linkage between K88ab, K88ac intestinal receptors toEscherichia coliand transferrin loci in pigs

Segregation at the loci coding for the K88ab and K88ac small intestinal receptors to E. coli adhesins (K88abR, K88acR) and at the transferrin (TF) locus was studied in 38 pig families including 273 piglets. The TF locus showed a segregation deviation towards the B variant while each of the K88 receptors behaved as a single autosomal dominant gene. Recombinants between K88abR and K88acR provide evidence that they are under the control of two different loci. Thirty-two triple backcross families were selected to test linkage and estimate recombination rates (theta). Our results demonstrate that the two K88 receptor loci are closely linked (theta = 0.02) with a maximum lod score value (Zm) of 46.0. In addition, they are linked to the TF locus, theta = 0.14, Zm = 19.6 for the K88abR locus and theta = 0.16, Zm = 17.9 for the K88acR locus. The estimated recombination rates, smaller in males than in females, are consistent with the order TF-K88abR-K88acR. This linkage thus localizes the K88 loci, as the TF locus, on chromosome 13.

Chromosomal Mapping of Genetic Locus Associated with Thymus‐size Enlargement in BUF/Mna Rats

The thymoma‐prone rat of the BUF/Mna strain is a useful model for human thymoma. In this strain thymoma development is regulated by a single autosomal susceptible gene, Tsr‐1. At pre‐thymoma age, BUF/Mna rats have extremely large thyrauses, when compared to those of other strains of rats. Genetic studies in crosses between BUF/Mna rats with large thymuses and WKY/NCrj rats with small thymuses suggested the presence of a major autosomal gene, Ten‐1, which contributes to thymus enlargement in a backcross population. Linkage studies between Ten‐1 and microsatellite markers in backcross rats of (WKY/NCrj×BUF/Mna)Fl×BUF/Mna have led to the localization of Ten‐1 in chromosome 1. This result may provide an approach to clone Tsr‐1, which could be allelic to Ten‐1.

Auxiliary determination of the degree and level of resistance in field populations of arthropods using spline regression analysis

Mechanisms of insecticide and acaricide resistance are, as a rule, inherited as single autosomal genes. Pesticide‐treated pest populations with established resistance mechanisms mostly consist of both susceptible and resistant individuals. For practical purposes determination of the level of resistance (percent of resistant individuals) is more informative than the resistance degree. A method of spline regression analysis is presented allowing the evaluation of the status of resistance by calculating bioassay data.

A single autosomal gene defect severely limits IgG but not IgM responses in B lymphocyte-deficient A/WySnJ mice.

Antigen-stimulated B lymphocytes either differentiate into IgM-secreting plasma cells or into memory B cells that secrete other immunoglobulin isotypes upon antigen restimulation. The mechanisms that generate and maintain memory B cells are poorly understood. Previously, we described a severe B lymphocyte deficiency in adult strain A/WySnJ mice compared to subline A/J. Here we show that the single, autosomal co-dominant locus responsible for the deficiency also diminishes IgG-secreting B cell formation without interfering with IgM-secreting plasma cell differentiation. A/WySnJ secondary IgG1 responses to the protein antigens hemocyanin, bovine gamma-globulin, ovalbumin, lysozyme and beta-galactosidase were 6- to 50-fold lower than A/J responses. The defect also decreased secondary IgG2a and IgG3 responses, and primary IgG1 and IgG2a responses. The reduced A/WySnJ secondary IgG1 response was not due to differential response kinetics or dose responsiveness, and could not be augmented to A/J levels by repeated immunizations. Serum IgG1, IgG2a and IgG3 levels from nonimmune A/WySnJ mice were similarly reduced. The secondary IgG1 response and splenic B cell percentage showed significant positive correlation (r = 0.72) in F2 mice, suggesting that a single locus controlled both traits. In contrast, A/WySnJ mice made good primary IgM responses to hemocyanin, beta-galactosidase, and the thymus-independent antigen trinitrophenyl-Ficoll. The A/WySnJ splenic adherent cells were competent in antigen-presenting function, and A/WySnJ immune T cells proliferated in response to antigen and provided the requisite B cell stimulatory signals for an IgG1 response. Together, our results suggest that A/WySnJ mice have a genetic lesion that causes a selective IgG immune response dysfunction. The absence of IgG-secreting cell precursors or a defect in precursor activation or differentiation are two possible mechanisms which could precipitate a selective IgG response dysfunction. We propose that the defective A/WySnJ and normal A/J strain pair offer the opportunity to use a natural genetic variation as a tool to investigate B lymphocyte development and function.

A genetic study of idiopathic focal dystonias

A genetic study of idiopathic focal dystonias was undertaken by examining 153 first-degree relatives of 40 index patients with torticollis (14 patients), other focal cranial dystonias (16 patients), and writer's cramp (10 patients). Nine relatives with dystonia were identified in 6 families; 8 of these had symptoms such as clumsiness or tremor, but none were aware of any dystonia. A further 4 relatives, now decreased, were affected by history. Overall, 25% of index patients had relatives with dystonia. The results of segregation analysis suggested the presence of an autosomal dominant gene or genes with reduced penetrance as a common cause for focal dystonia. Segregation ratios were not significantly different from those ratios observed in generalized or segmental dystonia in the United Kingdom, and it is possible that a single autosomal dominant gene mutation is responsible for inherited dystonia in the majority of patients irrespective of distribution or severity.

DDD/1マウスで見いだされた優性白内障の特性

We found a female cataractous DDD/1-nu/+ mouse and established a hairy mutant strain (DDD/1-Cti/Cti) with 100% incidence of cataract from it by repeating sibmating. Genetic studies demonstrated that a single autosomal semidominant gene controls cataractogenesis. This gene was named Cti. In homozygotes, DDD/1-Cti/Cti, the lenses began to opacify at 14 days of fetal life and were recognized clinically as cataract at 13-14 days of age when the eyes first open. The opacification became more and more intense with age and looked like mature cataract at 28-42 days of age. However, clarification of the opacified lenses commenced at the periphery after 56 days of age and expanded to the inside with time, and only an opaque spot was left at the center at 140 days of age. In heterozygotes, DDD/1-Cti/+, the lenses were recognizable as cataract after 28 days and became like mature cataract around 35 days of age. The opacity began to be lightened at 42 days and the lenses appeared normal at 56 days of age. Both lenses and eyeballs developed in similar courses in DDD/1(-)+/+, -Cti/+ and -Cti/Cti, although slightly retarded in the last. Microphthalmia was not accompanied even in DDD/1-Cti/Cti. The lens water content remained higher during the time when intense lens opacity continued in DDD/1-Cti/Cti and -Cti/+. Background genes appeared to affect the expression of Cti. DDD/1-Cti(-)+ mice may provide a model for researches into clarification of opaque lenses. A discussion concerning the possible allelism of Cti and Cts with Lop was made based on their phenotypic characteristics.

Two Pathways for GM2(NeuGc) Expression in Mice: Genetic Analysis1

We have reported that WHT/Ht mice express neither GM2(NeuGc) nor GM1(NeuGc) in the liver or erythrocytes due to a defect on the Ggm-2 gene, which was demonstrated to control the activity of UDP-GalNAc:GM3(NeuGc) N-acetylgalactosaminyltransferase in mouse liver, and, in addition, WHT/Ht mice do not express a detectable amount of GM2(NeuGc) but do express GM1(NeuGc) in tissues other than the liver and erythrocytes, such as the spleen, thymus, heart, lung, kidney, and testis [Nakamura et al. (1988) J. Biochem. 103, 201-208]. In order to determine whether the phenotype of WHT/Ht mice exhibiting an undetectable amount of GM2(NeuGc) in these tissues is genetically controlled or not, we analyzed the expression of gangliosides in the progeny obtained on backcross mating between (BALB/c X WHT/Ht)F1 and WHT/Ht mice, and in a GM2(NeuGc) congenic mouse, WHT.C. Concerning the expression of GM2(NeuGc) in the liver, lung, and kidney, 102 backcross mice could be segregated into two types. One type expressed a detectable amount of GM2(NeuGc) in the liver, lung, and kidney, and the other type did not. The ratio of the numbers of mice exhibiting these two types was 42: 60, indicating that the two phenotypes were genetically determined by the involvement of a single autosomal gene. Recombination as to GM2(NeuGc) expression in the liver, lung, and kidney was not detected among the 102 backcross mice. Analysis of the GM2(NeuGc) congenic mouse indicated that a detectable amount of GM2(NeuGc) was expressed in the liver, erythrocytes, lung, kidney, heart, spleen, and small intestine.(ABSTRACT TRUNCATED AT 250 WORDS)

Susceptibility of inbred mice to Leishmania major infection: genetic analysis of macrophage activation and innate resistance to disease in individual progeny of P/J (susceptible) and C3H/HeN (resistant) mice

We tested the possibility that two phenotypic traits, defective activation of macrophage antileishmanial activities and susceptibility to infection with Leishmania major, were controlled by the same gene. We used P/J (susceptible) and C3H/HeN (resistant) mice to breed F1, backcross (Bx), and F2 mice that were tested individually for both traits, each of which is known to be controlled by a single autosomal gene. We found no correlation between the macrophage defect and cutaneous disease. There was a correlation between development of systemic disease and defective macrophage activation in Bx mice; this correlation, however, was not confirmed in the F2 population.

Genetic aspects of interpopulational differences in pheromone blend of cabbage looper moth,Trichoplusia ni

The genetic basis of interpopulational differences in the pheromone blend emitted by the cabbage looper moth,Trichoplusia ni (Hübner), was examined by crossing individuals from a field-derived population (P1) with individuals from a long-maintained laboratory colony (P2). These colonies differed in the emission rate and relative proportions of four of the five known minor pheromone components, but not in the emission rate of the major component, (Z)-7-dodecenyl acetate (Z7-12∶Ac). These differences in pheromone blend were quantitatively small but biologically significant, because in the field, males responded preferentially to traps baited with a pheromone blend that is similar to that emitted by P1 females relative to a blend similar to that emitted by P2 females. In initial crosses, variation in the quantity and quality of pheromone blends among families of P1, P2, and F1 hybrid females was examined. In F1 females the relative proportions (quantity relative to the major component) of (Z)-5-dodecenyl acetate (Z5-12∶Ac) and (Z)-7-tetradecenyl acetate (Z7-14∶Ac) were intermediate to parental lines. In a second more extensive set of crosses, analyses included P1, P2, F1, F2, and selected backcrosses. The relative proportion of Z5-12∶Ac, Z7-14∶Ac, and Z9-14∶Ac emitted by F1 females were intermediate to parental lines. The frequency distributions of relative proportions of these components emitted by females were not consistent with those expected under a single autosomal or sex-linked gene hypothesis, suggesting that more than one gene is involved in the quantitative differences in the pheromone blend.

The Expression of IV6β[ Gal β1–4(Fucα1–3)GlcNAc]-Gb5Cer in Mouse Kidney Is Controlled by the Gsl-5 Gene through Regulation of UDP-GlcNAc:Gb5Cer β1–6N-Acetylglucosaminyltransferase Activity1

We reported the polymorphic expression of GL-Y (IV6 beta[Gal beta 1-4(Fuc alpha 1-3)GlcNAc]-Gb5Cer in kidneys of inbred strains of mice in previous papers [J. Biochem. 101, 553-562 and 563-568 (1987)]. DBA/2 mice express a large amount of GL-X (Gb5Cer), but not GL-Y, in their kidneys, because of a defect on a single autosomal gene (Gsl-5). This suggested that DBA/2 mice lack the ability to transfer GlcNAc onto the C-6 position of GalNAc of Gb5Cer or GL-X. In this study, we characterized UDP-GlcNAc:GL-X beta 1-6N-acetylglucosaminyltransferase (beta 1-6GlcNAc transferase) in the microsomal fraction of mouse kidney. Maximum activity was detected with an incubation mixture containing sodium cacodylate buffer (pH 6.4), 0.1% Zwittergent 3-16 and 1 mM EDTA. Divalent cations were not required. The apparent Km values for UDP-GlcNAc and GL-X were 0.42 and 0.12 mM, respectively. The product of the enzymatic reaction was identified as IV6 beta GlcNAc-Gb5Cer by means of 1H-NMR spectroscopy and permethylation analyses. Then, we measured the beta 1-6GlcNAc transferase activity in the microsomal fractions of kidneys of inbred strains of mice and progeny obtained on mating. WHT/Ht, C57BL/10, BALB/c, and C3H/He mice, which express GL-Y in their kidneys, exhibited detectable amounts of activity, whereas CBA and DBA/2 mice, which do not express GL-Y, did not exhibit detectable activity.(ABSTRACT TRUNCATED AT 250 WORDS)

Evidence that the Rate of Wallerian Degeneration is Controlled by a Single Autosomal Dominant Gene.

In a substrain of C57BL mice, C57BL/Ola, Wallerian degeneration in the distal segment of the severed sciatic nerve is extremely slow when compared to other mice. Despite this very slow degeneration in the distal segment regeneration of the motor nerves is not impaired. From suitable genetic outcrosses and backcrosses, the authors provide evidence that the rate of Wallerian degeneration in this strain is controlled by a single autosomal gene product. The authors have also shown that the rate of degeneration, in C57BL/Ola mice, is influenced by the environment in which the animals were bred and housed. Wallerian degeneration in the sciatic nerves of mice raised in isolators is slower than in those raised in a conventional animal house. This strain of mouse may prove to be of value in the understanding of nerve degeneration and regeneration.

A mutation in pheromonal communication system of cabbage looper moth,Trichoplusia ni

A mutation that results in a dramatic change in the relative proportions of the pheromone components produced by female cabbage looper moths has been found. The most notable changes involve reduction in the emission rate of the major component [(Z)-7-dodecenyl acetate], near absence of a component [(Z)-5-dodecenyl acetate] that is normally present at about 20% of the major component, and a remarkable ca. 20-fold increase in a trace component [(Z)-9-tetradecenyl acetate]. In spite of the multiplicity of changes in the pheromone blend, a genetic analysis indicates that the condition is controlled by a single autosomal gene. These mutants are ineffective in attracting conspecifics, but do attract another distantly related noctuid moth. These results suggest that the evolutionary process that leads to distinct chemical signals in sibling species may include single gene mutations that lead to major changes in the species-specific blend.

Inheritance of the red color in tilapias

The inheritance of the red color was studied in two different varieties of tilapia which are both considered as hybrids of Oreochromis mossambicus. Crosses between red tilapia from the Philippines (PRT) and Sarotherodon galilaeus, or Oreochromis aureus gave a 1:1 ratio of red: normal and crosses between F1 black fish gave only black offspring. On the other hand crosses between the F1 red fish gave a 3:1 ratio of red:black and crosses between F1 red and black offspring gave a 1:1 ratio. These results lead to the conclusion that red color is dominant over the normal black color and controlled by a single autosomal gene (R). A unique phenotype named ‘albino with black eyes’ was observed among offspring of PRT and a presumed model of inheritance of this trait is proposed. Genetic analysis of a second variety of red tilapia (derived from an unknown origin) showed the following results: crosses between parents and between their F1 offspring consistently gave 100% red fish and crosses between this red tilapia and Oreochromis aureus gave 100% black offspring. The crosses between red and black F1 of these last two crosses gave a 1:1 ratio and crosses carried out between the black F1 offspring gave a 1:3 ratio of red:black. It may be concluded from these results that the black color is dominant in this strain and that this color is controlled by a single autosomal gene (B). The presumed mode of action of the dominant gene (R) as well as of the recessive gene (b) are discussed.

Genetic Regulation of GM4(NeuAc) Expression in Mouse Erythrocytes1

The polymorphic expression of GM4(NeuAc), GM3(NeuGc), GM2(NeuGc), and GM1(NeuGc) was found in erythrocytes of inbred strains of mice [Nakamura, K. et al. (1988) J. Biochem. 103, 201-208]. In this paper, we report the results of genetic analysis of the expression of GM4(NeuAc) and GM2(NeuGc). Ganglioside analysis of the progeny obtained on mating between BALB/c mice [GM4 (+)] and WHT/Ht or C57BL/6 mice [both GM4 (-)] indicated that the expression of GM4(NeuAc) is an autosomal dominant trait, and that WHT/Ht and C57BL/6 mice carry a defect on a single autosomal gene. We named this gene Gsl-4. On quantitative determination of galactosylceramide (GalCer), which is the biosynthetic precursor of GM4(NeuAc), the content of GalCer was found to be quite low in WHT/Ht erythrocytes, compared with in BALB/c erythrocytes. On analysis of GM4(NeuAc) and GalCer in 92 backcross mice produced on mating between BALB/c and WHT/Ht mice, it was found that 45 GM4(+) mice apparently expressed a detectable amount of GalCer and that 47 GM4(-) mice expressed an almost undetectable amount of GalCer. These results suggest that Gsl-4 controls the expression of GM4(NeuAc) by regulating the content of GalCer. Linkage analysis of Gsl-4 and the gene controlling GM2(NeuGc) in erythrocytes indicated that the two genes are not genetically linked. Comparison of the ganglioside expression in liver and erythrocytes of the same backcross mice suggested that the gene controlling GM2(NeuGc) expression in the liver (Ggm-2) is also responsible for the expression of GM2(NeuGc) in erythrocytes.

Genetics of Body Color in Tilapia mossambica

AbstractGold, bronze, and black (normal pigmentation) body colors in Tilapia mossambica are controlled by a single autosomal gene with incomplete dominant gene action: GG fish are black gg fish are gold; Gg fish are bronze. Because gold body color is produced by the recessive genotype, it is easy to produce and to maintain a truebreeding population of gold T. mossambica for commercial purposes. If all other colors are culled, the population will breed true, because gold × gold will always produce 100% gold offspring. The G gene will be a valuable genetic marker for many genetic studies, such as the production of gynogenetic T. mossambica.

Hydroxylation of CMP-NeuAc Controls the Expression of N-Glycolylneuraminic Acid in GM3 Ganglioside of the Small Intestine of Inbred Rats

An enzymatic activity responsible for the hydroxylation of CMP-NeuAc into CMP-N-glycolylneuraminic acid (CMP-NeuGc) was found in the cytosolic fraction after cellular fractionation of the mucosa of rat small intestine. It was maximum in the presence of NADPH or NADH, but it was reduced by 50% by addition of 1 mM EDTA. The Km value for CMP-NeuAc was 0.6 microM. The CMP-NeuAc hydroxylase activity paralleled the expression of the GM3 (NeuGc) phenotype in the epithelium of the small intestine and was not measurable in the mutant rats BN and SHR that only expressed GM3 (NeuAc). Furthermore, the only form of CMP-sialic acid present in the intestinal mucosa of the mutants was CMP-NeuAc, whereas in the other strains CMP-NeuGc accounted for 70-85% of the native CMP-sialic acids. Wild-type and CMP-NeuAc hydroxylase-deficient inbred rats were mated. Individuals of F1 and backcross generations were typed for the phenotypes GM3(NeuGc)/GM3(NeuAc) and the activity of CMP-NeuAc hydroxylase in the small intestine. It was found that the expression of NeuGc in GM3 depends on a single autosomal dominant gene and correlates with the activity of CMP-NeuAc hydroxylase. Two tissues other than small intestine, kidney and spleen, which expressed GM3(NeuGc) in BN and SHR, also expressed the CMP-NeuAc hydroxylase activity, as in the other strains. It was concluded that the key enzyme responsible for the presence of NeuGc in GM3 is a CMP-NeuAc hydroxylase and that mutant rats carry a defect that is specific to intestine. The comparative analysis of the respective contribution of NeuGc and NeuAc to the glycoprotein sialic acids of the small intestine showed that CMP-NeuAc hydroxylase is also responsible for part of the NeuGc present in the glycoproteins. However, the occurrence of 20-30% of NeuGc in the intestinal glycoproteins of the CMP-NeuAc hydroxylase-deficient rats indicated that there is another enzyme providing intestinal glycoproteins with NeuGc and operating under a different genetic control.

The genetics, ultrastructure, and tubulin polypeptides of mebendazole-resistant mutants of Caenorhabditis elegans

Mebendazole-resistant mutants of Caenorhabditis elegans were isolated following mutagenesis of the wild-type strain, N2, with ethylmethane sulphonate. The mutants define a single autosomal gene and are allelic to ben-1. They grow, move, and reproduce normally in the presence of mebendazole and are cross-resistant to albendazole, cambendazole, fenbendazole, methylbenzimidazole carbamate, and thiabendazole. Accumulations of membrane-bound, electron-dense material associated with the nervous tissue and associated cells are seen in electron micrographs of L3, L4, and adult stages of N2 grown in the presence of mebendazole, but are not found in the mutants. The electron-dense material appears to be associated with the accessory cells of the neuropil rather than with the neurons. The tubulins from wild type, N2, and the mutants were characterised by two-dimensional electrophoresis followed by silver staining and Western blotting with monoclonal antibodies to α- and β-tubulin. A single isotype of α-tubulin is apparent in both N2 and the mutants. One major and three minor β-tubulin isotypes, bt-1 to bt-3, can be discerned in N2; the minor isotype bt-2 is absent in all the mutants. These findings suggest that the isotype bt-2 is the primary site of action of benzimidazole-based drugs in C. elegans.

Inheritance of the snakeskin color pattern in the guppy, Poecilia reticulata.

We made single-pair reciprocal crosses between the Green Snakeskin and Yellow Snakeskin domesticated strains of the guppy, Poecilia reticulata. The two snakeskin strains differ by a single autosomal gene, with the Green Snakeskin strain having the wild-type background coloration caused by the dominant gene (B), whereas the Yellow Snakeskin is homozygous for the recessive blond allele (bb). The snakeskin body and tail patterns characterizing males of these two strains are determined by two genes--Ssb and Sst--that are closely linked on the Y chromosome. The greenish-yellow tail color of the Green Snakeskin strain is mediated by an X-linked dominant gene, Grt. The recessive wild-type allele, Grt+, gives the hyaline tail color. In the Yellow Snakeskin strain, the Grt gene is expressed as a golden-yellow color as a result of the presence of the bb homozygous condition. The putative genotypes of the males and females of the Green Snakeskin strain are BB XGrt YSsb,Sst and BB XGrt XGrt, respectively. Males and females of the Yellow Snakeskin strain have the putative genotypes bb XGrt YSsb,Sst and bb XGrtXGrt, respectively. As a result of crossing over between the X and Y chromosomes, a few males and females of these two snakeskin strains may carry one or both snakeskin pattern genes (Ssb and Sst) on the X chromosome.

Mousepox in inbred mice innately resistant or susceptible to lethal infection with ectromelia virus. V. Genetics of resistance to the Moscow strain.

The genetics of resistance to the Moscow strain of ectromelia virus was examined in crosses derived from resistant C57BL/6 (B6) and susceptible DBA/2 (D2) mice. Infection with 10(1) to 10(5) PFU of virus resulted in mortalities of 90 to 100% of D2, 0% of B6 and 0 to 3% of (B6 x D2) F1 mice by day 21. Among F1 x D2 backcross progeny, 49% of male and 18% of female mice died. Reciprocal backcrossing did not alter male or female mortality rates. These data are consistent with a single autosomal dominant gene controlling resistance to ectromelia in male mice and at least one additional dominant sex-limited gene controlling resistance in female mice. Fewer male F2 mice died than were predicted based on single-locus control and 32% of recombinant inbred (RI) strains derived from B6 and D2 progenitors expressed non-parental phenotypes. Therefore, additional resistance genes, not expressed in backcross mice, were apparently expressed in F2 mice and RI strains.

A single autosomal gene controlling the expression of the extended globoglycolipid carrying SSEA-1 determinant is responsible for the expression of two extended globogangliosides.

Two extended globogangliosides, designated as Z1 and Z2, were purified from the kidney of DBA/2 mice. By means of GLC, 1H-NMR spectroscopy, negative-ion fast atom bombardment mass spectrometry, methylation analysis, and enzymatic digestion, the structures of Z1 and Z2 were determined to be NeuGc alpha 2-3Gal beta 1-3GalNAc beta 1-3Gal alpha 1-4Gal beta 1-4Glc beta 1-Cer and NeuGc alpha 2-8NeuGc alpha 2-3Gal beta 1-3GalNAc beta 1-3Gal alpha 1-4Gal beta 1-4Glc beta 1-Cer, respectively. Since Z1 and Z2 were not detectable in the kidney of C57BL/10 and 6, BALB/c, and WHT/Ht mice, the mode of genetic control on Z1 and Z2 expression was examined by mating experiments between C57BL/10 or BALB/c and DBA/2. The results indicated that the expression of Z1 and Z2 is a recessive phenotype and that DBA/2 mice carry a single autosomal recessive gene. In the previous paper, we reported that DBA/2 mice do not express GL-Y (Gal beta 1-4(Fuc alpha 1-3)GlcNAc beta 1-6(Gal beta 1-3)Gb4Cer) but express GL-X (Gal beta 1-3Gb4Cer) in the kidney (J. Biochem. 101, 553-562 (1987)), and that a single autosomal defective gene responsible for the defective GL-Y expression was identified by genetic analysis (J. Biochem. 101, 563-568 (1987)).(ABSTRACT TRUNCATED AT 250 WORDS)