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PubMed1998

Differential inspiratory timing is genetically linked to mouse chromosome 3.

Genetic control of differential inspiratory timing (TI) at baseline has been previously demonstrated among inbred mouse strains. The inheritance pattern for TI between C3H/HeJ (C3; 188 +/- 3 ms) and C57BL/6J (B6; 111 +/- 2 ms) progenitors was consistent with a two-gene model. By using the strain distribution pattern for recombinant inbred strains derived from C3 and B6 progenitors, 100% concordance was established between TI phenotypes and DNA markers on mouse chromosome 3. This genotype-phenotype hypothesis was tested by typing 52 B6C3F2 (F2) progeny by using simple sequence repeat DNA markers (n = 21) polymorphic between C3 and B6 strains on mouse chromosome 3. Linkage analysis compared marker genotypes to baseline ventilatory phenotypes by computing log-likelihood values. A putative quantitative trait locus located in proximity to D3Mit119 was significantly associated with baseline TI phenotypes. At the peak (log-likelihood = 3.3), the putative quantitative trait locus determined 25% of the phenotypic variance in TI among F2 progeny. In conclusion, this genetic model of ventilatory characteristics demonstrated an important linkage between differential baseline TI and a candidate genomic region on mouse chromosome 3.

Animals↗
PubMed2005

Array lessons from the heart: focus on the genome and transcriptome of cardiomyopathies.

Our understanding of the cardiovascular system has evolved through the years by extensive studies emphasizing the identification of the molecular and physiological mechanisms involved in its normal function and disease pathogenesis. Major discoveries have been made along the way. However, the majority of this work has focused on specific genes or pathways rather than integrative approaches. In cardiomyopathies alone, over 30 different loci have shown mutations with varying inheritance patterns, yet mostly coding for structural proteins. The emergence of microarrays in the early 1990s paved the way to a new era of cardiovascular research. Microarrays dramatically accelerated the rhythm of discoveries by giving us the ability to simultaneously study thousands of genes in a single experiment. In the field of cardiovascular research, microarrays are having a significant contribution, with the majority of work focusing on end-stage cardiomyopathies that lead to heart failure. Novel molecular mechanisms have been identified, known pathways are seen under new light, disease subgroups begin to emerge, and the effects of various drugs are molecularly dissected. This cross-study data comparison concludes that consistent energy metabolism gene expression changes occur across dilated, hypertrophic, and ischemic cardiomyopathies, while Ca2+ homeostasis changes are prominent in the first two cardiomyopathies, and structural gene expression changes accompany mostly the dilated form. Gene expression changes are further correlated to disease genetics. The future of microarrays in the cardiomyopathy field is discussed with an emphasis on optimum experimental design and on applications in diagnosis, prognosis, and drug discovery.

Calcium↗
PubMed2000

A novel ATPase on mouse chromosome 7 is a candidate gene for increased body fat.

A region of mouse chromosome 7, just distal to the pink-eyed (p) dilution locus, contains a gene or genes, which we have named p-locus-associated obesity (plo1), affecting body fat. Mice heterozygous for the most distally extending chromosomal deletions of this region have nearly double the body fat of mice when the deletion is inherited maternally as when it is inherited paternally. We have physically mapped the 1-Mb critical region, which lies between the Gabrb3 and Ube3a/Ipw genes, and DNA sequencing has localized a new member of the third subfamily of P-type ATPases to the minimal region specifying the trait. This gene, which we have called p-locus fat-associated ATPase (pfatp) is differentially expressed in human and mouse tissues with predominant expression in the testis and lower levels of expression in adipose tissue and other organs. We propose this ATPase as the prime candidate for the gene at the plo1 locus modulating body fat content in the mouse. The unusual inheritance pattern of this phenotype suggests either genomic imprinting, known to occur in other local genes (Ube3a, Ipw), or an effect of maternal haploinsufficiency during pregnancy or lactation on body fat in the progeny.

Adenosine Triphosphatases↗
PubMed2005

Distal Chr 4 harbors a genetic locus (Gct1) fundamental for spontaneous ovarian granulosa cell tumorigenesis in a mouse model.

The spontaneous development of juvenile-onset ovarian granulosa cell tumors in mice of the SWXJ-9 recombinant inbred strain is a model for juvenile-type granulosa cell tumors that appear in very young girls. To expedite gene discovery in this mouse model of childhood cancer, we did a gene mapping study with the SWXJ-9 recombinant inbred strain and the evolutionarily divergent Mus musculus castaneus (CAST/Ei) strain as a mapping partner. Our mapping strategy focused on autosomal determinants of susceptibility with a backcross scheme that exploited a paternal, parent-of-origin effect for a X-linked gene (Gct4) that strongly supports granulosa cell tumor development. Of 1,968 backcross females examined, we detected 81 granulosa cell tumor-bearing animals and compared their allelic inheritance patterns to non-tumor-bearing siblings in a case-control analysis. The results of our study have confirmed an important locus on mouse chromosome (Chr) 4 (Gct1) and have revealed new loci for granulosa cell tumor susceptibility (Gct7-Gct9) on Chrs 1, 2, and 13 with susceptibility alleles contributed by the SWXJ-9 progenitor. Two novel gene-gene interactions supportive for granulosa cell tumor development were also observed between loci on Chrs 17 and 18 and loci on Chrs 2 and 10. Our data substantiate the evidence that Gct1 on Chr 4 is a fundamental oncogene for granulosa cell tumorigenesis in mice and has identified additional interacting autosomal loci that support tumor development.

Animals↗
PubMed2005

X-linked dominant growth suppression of transplanted tumors in C57BL/6J-scid mice.

Tumor susceptibility, angiogenesis, and immune response differ between mouse strains. We, therefore, examined the growth rates of tumor xenografts in three genetically isolated strains of severe combined immunodeficient mice (C.B-17, C57BL/6J, and C3H). Tumors grew at significantly reduced rates in the C57BL/6J-scid strain. Engrafting bone marrow from the C57BL/6J-scid strain onto C.B-17-scid mice did not transfer the slow-growing tumor phenotype to the recipient mice; this counters the supposition that the slow-growing tumor phenotype is caused by a greater immune response to the xenograft in the C57BL/6J-scid strain. To establish the inheritance pattern of the slow-growing tumor phenotype, we reciprocally crossed C.B-17-scid mice and C57BL/6J-scid mice. Tumor growth was suppressed in all of the F1 progeny except the male mice derived from the cross between C.B-17-scid female and C57BL/6J-scid male mice. The F1 male mice that received the X chromosome from the C.B-17 strain displayed a fast-growing tumor phenotype. These results confirm that there are significant strain differences in capacity to support the growth of tumor xenografts. In addition, these results reveal the existence of a dominant allele involved in host suppression of tumor growth on the X chromosome of C57BL/6J mice.

Alleles↗
PubMed1999

Inflammatory bowel disease and pregnancy: a review.

Inflammatory bowel disease often occurs during peak reproductive years. Rates of conception, pregnancy outcome and disease course during pregnancy should be discussed prior to attempted conception. The majority of patients whose disease is well controlled prior to pregnancy should expect a fertility rate comparable to the general population, and an uncomplicated pregnancy with a favorable outcome. The disease should continue to be pharmacologically or surgically controlled as necesssary during pregnancy; the majority of drug options available to pregnant patients being without detriment to the fetus. No predictable inheritance pattern has been established and, at this time, there is no ability to screen prenatally.

Adult↗
PubMed1999

Pseudoxanthoma elasticum: an update.

Pseudoxanthoma elasticum (PXE) is an inherited disorder of elastic tissue with many systemic manifestations. The disease varies widely in its degree of expression and inheritance patterns and is believed to be considerably underdiagnosed due to lack of familiarity with the condition among physicians. The purpose of this article was to provide an update on important topics in PXE. Common presentations of the disease as well as the histopathology are discussed. The genetics of PXE as well as the importance of early diagnosis and genetic counseling are addressed. Special areas of concern, such as PXE in childhood, are reviewed. Finally, the article concludes with management of the disease and current areas of research.

Humans↗
PubMed1999

Genetic maternal effects on human life span through the inheritance of mitochondrial DNA.

Ageing consists of an accumulation of changes with time both at the molecular and cellular levels, accompanying an increased susceptibility to diseases and death. If maternally inherited mitochondrial genes are involved in defining the nature and timing of ageing, and if there are genetic differences in their susceptibility to damage, a maternal contribution could be found in the inheritance of life span. The present study explores the inheritance pattern of longevity and discovers a significant genetic maternal component in human life span.

Adult↗
PubMed2001

The molecular basis of Dutch infantile nephropathic cystinosis.

Infantile nephropathic cystinosis, an inborn error of metabolism with an autosomal recessive inheritance pattern, is characterized by lysosomal storage of the amino acid cystine due to an impaired transport of cystine out of the lysosomes. Initial clinical features consist of the renal Fanconi syndrome and crystals in the cornea. Oral therapy with cysteamine lowers the intracellular cystine content. Recently, the gene coding for the integral membrane protein cystinosin, which is responsible for membrane transport of cystine (CTNS), was cloned. Mutation analysis of the CTNS gene of Caucasian patients revealed a common 57-kb deletion, and several other mutations spread throughout the entire gene. In the present study, we developed an improved screening method for the detection of the common 57-kb deletion. By use of this method we detected the 57-kb deletion in 59% of the examined Dutch alleles. The remaining alleles were screened for other mutations by genomic sequencing of the different exons, revealing three previously described mutations. Furthermore, we studied a possible genotype-phenotype relation of the homozygous deleted patients, which could not be demonstrated in our study population. Next to biochemical determination of cystine in leukocytes or fibroblasts, molecular genetic analysis enables prenatal diagnosis and facilitates identification of carriers.

Amino Acid Transport Systems, Neutral↗
PubMed2000

Neonatal diabetes: new insights into aetiology and implications.

Neonatal diabetes mellitus (NDM) is defined as hyperglycaemia occurring in the first few weeks of life. It can be either transient (TNDM) or permanent (PNDM), and until recently, little was known about the condition. A cohort of 30 infants with a history of TNDM has been studied, and findings have suggested that NDM does not have the same aetiology as classical type 1 childhood diabetes. Uniparental isodisomy of chromosome 6 and an unbalanced duplication of paternal chromosome 6 have both been described as a genetic basis for TNDM in over 75% of the cases. In addition, cerebellar hypoplasia and Walcott-Rallison syndrome have been associated with PNDM, suggesting an autosomal recessive inheritance pattern; furthermore, a mutation in the gene insulin promoter factor 1 has been identified as a cause of pancreatic agenesis in PNDM. In the long term, TNDM may reduce beta cell functional capacity and present a predisposition to type 2 diabetes mellitus.

Chromosome Aberrations↗
PubMed2003

Genetic variation in Przewalski's horses, with special focus on the last wild caught mare, 231 Orlitza III.

In our continuing efforts to document genetic diversity in Przewalski's horses and relatedness with domestic horses, we report genetic variation at 22 loci of blood group and protein polymorphisms and 29 loci of DNA (microsatellite) polymorphisms. The loci have been assigned by linkage or synteny mapping to 20 autosomes and the X chromosome of the domestic horse (plus four loci unassigned to a chromosome). With cumulative data from tests of 568 Przewalski's horses using blood, hair or tooth samples, no species-defining markers were identified, however a few markers were present in the wild species but not in domestic horses. Inheritance patterns and linkage relationships reported in domestic horses appeared to be conserved in Przewalski's horses. A derived type for the last wild caught mare 231 Orlitza III provided evidence for markers apparently not found in (or not currently available by descent from) the other species founders that were captured at the end of the nineteenth century. This information has been critical to the development of parentage analyses in the studbook population of Przewalski's horses at Askania Nova, at one time the largest herd of captive animals and the source of stock for reintroduction efforts. Some horses in the study showed genetic incompatibilities with their sire or dam, contradicting published studbook information. In many cases alternative parentage could be assigned from living animals. To assist in identification of correct parentage, DNA marker types for deceased horses were established from archived materials (teeth) or derived from offspring. Genetic markers were present in pedigreed animals whose origin could not be accounted for from founders. Genetic distance analysis of erythrocyte protein, electrophoretic and microsatellite markers in Przewlaski's horses and ten breeds of domestic horse place the Przewalski's horse as an outgroup to domestic horses, introgression events from domestic horses not withstanding.

Animals↗
PubMed1988

Genetic analysis of late-onset diseases using first-degree relatives.

We consider the problem of testing that a disease with variable age at onset is an autosomal dominant or recessive genetic trait. Specific reference is made to Alzheimer's disease and recent publications proposing an autosomal dominant inheritance pattern. The pedigree structure allowed is restricted to first-degree relatives of the proband for the dominant and to sibs of the proband for the recessive hypotheses, respectively, in addition to the proband. The sampling method assumed is the one most often used in practice: single ascertainment or sampling pedigrees with probability proportional to size (pps), i.e., to the number of affected individuals within a pedigree who are in the sampling frame. The statistical methodology developed takes the sampling procedure into account and is a generalization of the Kaplan-Meier method of estimating survival functions to pps sampling.

Age Factors↗
PubMed1992

Familial migraine in a Mexican population.

We investigated the frequency of migraine in first-degree relatives of a group of migraine patients in two Mexican populations, one urban and one rural, and in control groups from the same populations. In the urban population, familial aggregation of migraine was found in 52.7% of patients and in the rural in 38.7%. The differences between controls and subjects were statistically significant in both populations. Our findings support the importance of a hereditary factor in migraine but not an autosomal dominant inheritance pattern.

Adolescent↗
PubMed1975

Triploidy and haploid-triploid mosaicism among chick embryos (Gallus domesticus).

Homomorphic, chromosomally abnormal roosters were mated to normal hens. The 23 hens produced 67 embryos, including two triploids and a haploid-triploid mosaic at about 26 hours of incubation. Both of the triploid embryos were conceived within a 5-day period. The presence of a single genome of paternal origin with marker chromosomes in each triploid led to the conclusion that these embryos were derived from diploid, ZW-type ova fertilized by haploid, Z-type spermatozoa. The inheritance pattern of the mosaic embryo was clearly due to a spermatozoal origin for the haploid cell line; and one genome of the three in the triploid cell line was paternal. The sec chromosomes were Z/ZZZ, with one Z of each cell line being a translocation product of paternal derivation.

Animals↗
PubMed1975

Validity of a screening test for typing serum cholinesterase variants among Greek populations.

A screening method for determining the abnormal phenotypes of human serum cholinesterase variants in a population survey was investigated. The test appeared to be satisfactory in detecting abnormal genotypes, but not assigning them into correct classification. The results of the population survey indicate that there may be a higher frequency of ChU1ChD1 genotype than those reported earlier. Family studies of the suxamethonium-sensitive propositi in this population demonstrate that abnormal genes ChD1, ChF1 and ChS1 are segregating, according to the usual Mendelian type of inheritance pattern. The possibility of a relatively high frequency of these abnormal genotypes among the Greek population has been indicated.

Cholinesterases↗
PubMed1975

Suxamethonium sensitivity and segregation of human serum cholinesterase variants at locus, Ch1, among twelve British families.

Sera from 39 individuals with suxamethonium apnoea have been examined. The likelihood of the ChU1ChD1 heterozygotes developing suxamethonium apnoea has been calculated. The results indicate that 1 in 4,000 of normal homozygotes and 1 in 400 of ChU1ChD1 heterozygotes develop suxamethonium apnoea. The period of suxamethonium apnoea in these individuals has been found shorter than that usually seen in ChD1ChD1 homozygotes. An approximate estimate of the frequency of the ChF1 and ChS1 genes has also been calculated. Twelve British families of these suxamethonium apnoea propositi have been examined. The inheritance pattern in all these families was found to be of the Mendelian type. Three of these families have been found to be segregating for the rarer ChF1 gene and two for ChS1 gene, respectively. This present study provides an additional piece of support to the hypothesis that the ChF1 and ChS1 are alleles determining the synthesis of usual and atypical cholinesterase together with the likelihood of ChU1ChD1 heterozygotes having occasional suxamethonium apnoea. In addition, the present report indicates that there may be cholinesterase variants besides dibucaine and fluoride-resistant, 'silent' and C5.

Apnea↗
PubMed1979

Genetic variants of human glucose-6-phosphate dehydrogenase in a Saharian and Pygmy family.

In two African communities, inhabitants of a Western Sahara oasis and Bi-Aka Pygmies (Central Africa), a genetic study of the distribution of G6PD phenotypes has been undertaken. Obtained data show the existence in both groups of slow electrophoretic variants with no enzyme deficiency or moderately reduced activity. Biochemical characterization of G6PD types was performed. In the Saharian family in which inheritance pattern of mutant G6PD was investigated, two alleles were found, the Negroid marker GdA- and Gd+Madrona, segregating among the different members. In the Pygmy family the Gd+Ibadan-Austin gene was detected. The incidence of these mutations in the groups studied, a comparison with similar G6PD variants observed in other African populations and the geographic distribution of these slow molecules are discussed in this paper.

Africa, Central↗
PubMedDate not supplied

Analysis of HLA haplotype segregation in the Schmiedeleut Hutterites of South Dakota.

HLA data from 1,085 South Dakotan Schmiedeleut Hutterites were examined for evidence of nonrandom transmission of haplotypes. The inheritance of haplotypes was viewed as a series of genetic contests between competing pairs of parental haplotypes using a maximum likelihood approach first put forward by Carlisle and Woodbury. Haplotype transmission probabilities were expressed in terms of weights, and the null hypothesis that the inheritance pattern was a random stochastic process, equivalent to the equality of the weights, was tested via the likelihood ratio. A total of 1,517 competitions was subjected to analysis, first globally using all data, and then for particular haplotypes of interest. Transmission of haplotype observed to compete with only a single other haplotype was also assessed using an exact procedure. No evidence of preferential transmission of HLA haplotypes was found. These results do not rule out transmission biases that may arise because of selection against homozygotes, mechanisms specifically affecting particular alleles or haplotypes not considered in the present study, or biases arising from maternal-fetal interactions.

Consanguinity↗