[II. Psychoses and psychopathies in isolate H. Genealogical clues for the dependency of 20 schizophrenics on the autosomal recessive principle gene with diminished penetrancy].
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Adult↗
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Results for “Genes, Recessive”
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Ethnic variation of genetic disease: roles of drift for recessive lethal genes.
Using Wright's distribution of gene frequencies for a recessive lethal gene, a method is given to analyze the probability that any particular gene frequency is greater than a given threshold gene frequency. The method is introduced to analyze the plausibility of drift for explaining observed data.
Computers↗
Bipolar affective disorder, chromosome 16p13.3, and recessive disease genes.
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Bipolar Disorder↗
Genome-wide analysis of defense-responsive genes in bacterial blight resistance of rice mediated by the recessive R gene xa13.
Defense responses triggered by dominant and recessive disease resistance (R) genes are presumed to be regulated by different molecular mechanisms. In order to characterize the genes activated in defense responses against bacterial blight mediated by the recessive R gene xa13, two pathogen-induced subtraction cDNA libraries were constructed using the resistant rice line IRBB13--which carries xa13--and its susceptible, near-isogenic, parental line IR24. Clustering analysis of expressed sequence tags (ESTs) identified 702 unique expressed sequences as being involved in the defense responses triggered by xa13; 16% of these are new rice ESTs. These sequences define 702 genes, putatively encoding a wide range of products, including defense-responsive genes commonly involved in different host-pathogen interactions, genes that have not previously been reported to be associated with pathogen-induced defense responses, and genes (38%) with no homology to previously described functional genes. In addition, R-like genes putatively encoding nucleotide-binding site/leucine rich repeat (NBS-LRR) and LRR receptor kinase proteins were observed to be induced in the disease resistance activated by xa13. A total of 568 defense-responsive ESTs were mapped to 588 loci on the rice molecular linkage map through bioinformatic analysis. About 48% of the mapped ESTs co-localized with quantitative trait loci (QTLs) for resistance to various rice diseases, including bacterial blight, rice blast, sheath blight and yellow mottle virus. Furthermore, some defense-responsive sequences were conserved at similar locations on different chromosomes. These results reveal the complexity of xa13-mediated resistance. The information obtained in this study provides a large source of candidate genes for understanding the molecular bases of defense responses activated by recessive R genes and of quantitative disease resistance.
Chromosomes, Plant↗
Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene.
Recessive mutations of PDS gene are the common causes of Pendred syndrome and non-syndromic hearing loss associated with temporal bone abnormalities ranging from isolated enlargement of the vestibular aqueduct (EVA) to Mondini dysplasia. In this study we evaluate the relationship between EVA and Mondini dysplasia in 10 prelingual deaf patients and PDS gene mutation. One of three mutations, IVS7-2A-->G, IVS16-6G-->A or IVS15+5G-->A, was identified in the PDS gene in each patient. In family studies of four probands with the IVS7-2A-->G mutation, we found that this mutation was inherited from the same mutant alleles of parental origin. The effect of IVS7-2A-->G mutation on PDS gene expression was determined by reverse transcription and polymerase chain reaction (RT-PCR). Sequencing of the RT-PCR products revealed that the PDS transcripts from the allele with IVS7-2A-->G mutation lose the entire exon 8, resulting in a joining of exons 7 and 9. Deletion of the exon 8 results in frameshift and premature termination of translation. Haplotype analysis showed a significant haplotype shared among the family members carrying IVS7-2A-->G mutation, suggesting that they may be derived from a common ancestor. Our results provide evidence that hearing loss with EVA and Mondini dysplasia may be caused by splice-site mutation in the PDS gene.
Adolescent↗
Retinoblastoma gene: a human cancer recessive (regulatory?) susceptibility gene.
The Rb susceptibility gene located in chromosomal region 13q14 apparently represents one of a class of recessive human cancer genes that can be contrasted to known oncogenes that function following amplification, aberrant insertion, or base substitutions at key sites within their gene. Loss of function of both Rb alleles appears to characterize the mechanism by which the Rb gene produces tumors, which may also include the second primary malignancies seen with high frequency in patients with the hereditary forms of retinoblastoma. Since the Rb gene may have a "suppressor" or "regulatory" function (which could include the regulation of an oncogene), cloning of such a human cancer susceptibility gene would seem highly worthwhile. Our laboratory, as well as several others, is therefore currently attempting to clone this gene.
Chromosomes, Human, 13-15↗
Segregation analysis of asthma: recessive major gene component for asthma in relation to history of atopic diseases.
Although asthma has a significant heritable component, the mode of inheritance remains controversial because of the complexity of the disease and the influence of environmental factors. Segregation analysis for asthma are performed with and without a history of atopic diseases (dermatitis and rhinitis) after adjusting for environmental factors. To investigate whether asthma may be inherited through a major gene with two alleles, the REGD program of the Statistical Analysis for Genetic Epidemiology (SAGE) package was conducted in 1,990 individuals from 227 families with at least one asthmatic child in a cross-sectional study of respiratory diseases in Southern Taiwan. Other covariates adjusted for included age, sex, current smoking, and environmental tobacco smoking. The hypothesis of Mendelian model and no parent-offspring transmission was rejected. However, when the variables of atopic disease and environmental factors were included in the model as covariates, the models for a two-allele gene with a recessive or codominant inheritance could not be rejected, and Akaike's Information Criterion was smaller (1,377. 13) for the recessive model than all of the other models tested, assuming a major gene with a population frequency of 0.56 +/- 0.04. However, Mendelian model without family effect was rejected. In conclusion, a history of asthma in parents is a strong risk factor for asthma in offspring. Under the assumptions of the applied segregation, at least one major gene exists that could be a gene involved also in allergy. However, the data suggest that a single locus gene explains a portion of asthma that is related to the history of atopic diseases. In addition, a polygenic/multifactorial (genetic and environmental factors) influence with a recessive component inheritance may be involved in the pathogenesis of asthma.
Adolescent↗
Considerations of statistical power in the shared-haplotypes test.
This paper considers statistical power properties of a test of whether a disease is caused by a recessive gene, using data on HLA sharing properties of affected sibs. It is found that the test has very poor power characteristics, and in particular we are sometimes just as likely to accept the hypothesis that the gene is recessive when it is dominant as when it is truly recessive.
Child↗
Evidence for a recessive major gene predisposing to human herpesvirus 8 (HHV-8) infection in a population in which HHV-8 is endemic.
Infection by human herpesvirus 8 (HHV-8), as measured by the presence of specific antibodies, was shown in countries in which HHV-8 infection is endemic to exhibit familial aggregation and a peculiar variation with age (rapid increase until puberty followed by a plateau in young adults). To investigate whether host genetic factors could explain these findings, a segregation analysis was performed of 81 families of African origin (1623 subjects; HHV-8 seroprevalence, 11.9%) living in a village in French Guiana in which HHV-8 infection is endemic. Results provide evidence for a recessive gene controlling susceptibility or resistance to HHV-8 infection. This gene is predicted to have a major effect during childhood, with almost all homozygous predisposed subjects ( approximately 6% of the population) being infected by age 15. For nonpredisposed subjects, HHV-8 infection in childhood strongly depends on virus exposure (through an HHV-8-infected mother), whereas the risk of infection appears to be low in young adults, with no evidence for heterosexual transmission.
Adolescent↗
Resident skin-specific gammadelta T cells provide local, nonredundant regulation of cutaneous inflammation.
The function of the intraepithelial lymphocyte (IEL) network of T cell receptor (TCR) gammadelta(+) (Vgamma5(+)) dendritic epidermal T cells (DETC) was evaluated by examining several mouse strains genetically deficient in gammadelta T cells (delta(-/-) mice), and in delta(-/-) mice reconstituted with DETC or with different gammadelta cell subpopulations. NOD.delta(-/-) and FVB.delta(-/-) mice spontaneously developed localized, chronic dermatitis, whereas interestingly, the commonly used C57BL/6.delta(-/-) strain did not. Genetic analyses indicated a single autosomal recessive gene controlled the dermatitis susceptibility of NOD.delta(-/-) mice. Furthermore, allergic and irritant contact dermatitis reactions were exaggerated in FVB.delta(-/-), but not in C57BL/6.delta(-/-) mice. Neither spontaneous nor augmented irritant dermatitis was observed in FVB.beta(-/-) delta(-/-) mice lacking all T cells, indicating that alphabeta T cell-mediated inflammation is the target for gammadelta-mediated down-regulation. Reconstitution studies demonstrated that both spontaneous and augmented irritant dermatitis in FVB.delta(-/-) mice were down-regulated by Vgamma5(+) DETC, but not by epidermal T cells expressing other gammadelta TCRs. This study demonstrates that functional impairment at an epithelial interface can be specifically attributed to absence of the local TCR-gammadelta(+) IEL subset and suggests that systemic inflammatory reactions may more generally be subject to substantial regulation by local IELs.
Animals↗
Germ cell cancer of the testis.
Publications confirming a higher incidence of testicular germ cell cancer (GCC) in offspring of dizygous than in monozygous pregnancies and following pregnancies associated with severe maternal nausea show that transplacental-acting estrogen damage to fetal germ cells is becoming established as a major epidemiologic risk factor for these tumors. Endogenous retrovirus expression in GCC is a new observation that, given the confirmation that a high-frequency recessive gene was the best-fitting genetic model of familial GCC, opens up new areas for epidemiologic research. With two papers confirming the importance of excess p53 expression in determining GCC chemotherapy response, particularly in seminoma, the question of whether seminoma should be treated with different chemotherapy strategies re-emerges. Preclinical data on oxaloplatin suggest that it is active in cisplatin-resistant tumors, and justifies further trials to reduce our dependence on cisplatin. These trials will be difficult to undertake given the long time taken to prove the poor results from use of carboplatin--which 12 years after launch has now been shown to be 17% worse at 3 years in combination with bleomycin and etoposide.
Adult↗
Genetics of human cancer.
Study of hereditary cancer in humans has revealed new mechanisms in carcinogenesis. In particular, a new class of cancer gene, recessive in oncogenesis, accounts for dominantly transmitted predisposition to some cancers, and may play a primary role in the nonhereditary forms of most cancers. Comparison of polymorphic markers in lymphocytes and tumors has permitted the in vivo observation of somatic events that lead to genetic recombination. The tissue specificities of these recessive cancer genes suggest that their normal alleles, like those of oncogenes, play important roles in normal development.
Chromosome Aberrations↗
Disruption of the yeast N-myristoyl transferase gene causes recessive lethality.
The structural gene for N-myristoyl transferase (NMT1) has been cloned from the budding yeast Saccharomyces cerevisiae. The gene encodes a polypeptide of 455 amino acids (Mr = 52,837) that has no identifiable significant primary sequence homology with any protein in currently available databases. Overexpression of NMT activity was achieved by means of the yeast episomal plasmid YEp24 without obvious effects on growth kinetics, cell morphology, or acylprotein metabolic labeling patterns. Insertional mutagenesis of the NMT1 locus on yeast chromosome XII caused recessive lethality, indicating that this protein acyltransferase activity is necessary for vegetative cell growth.
Acyltransferases↗
A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene.
Autosomal recessive nonsyndromic sensorineural deafness segregating in a large consanguineous Indian family was mapped to chromosome 11p14-p15.1 defining a new locus, DFNB18. A maximum lod score of 4.4 at theta = 0 was obtained for the polymorphic micro-satellite marker D11S1888. Haplotype analysis localizes this gene between markers D11S1307 and D11S2368, which is approximately 1.6 cM and encompasses the region of Usher syndrome type 1C (USH1C). We postulate that DFNB18 and USH1C are allelic variants of the same gene.
Chromosome Mapping↗
Recessive resistance genes against potyviruses are localized in colinear genomic regions of the tomato ( Lycopersicon spp.) and pepper ( Capsicum spp.) genomes.
Resistance against both Potato virus Y (PVY) and Tobacco etch virus (TEV) was identified in the wild tomato relative Lycopersicon hirsutum PI247087. Analysis of the segregation ratio in F(2)/F(3) and BC(1) interspecific progenies indicated that a single recessive gene, or two very tightly linked recessive loci, are involved in resistance to both potyviruses. This locus was named pot-1. Using amplified fragment length polymorphism markers and a set of L. hirsutum introgression lines, pot-1 was mapped to the short arm of tomato chromosome 3, in the vicinity of the recessive py-1 locus for resistance to corky root rot. Because of the occurrence of phenotypically similar genes in pepper ( Capsicum spp.), the comparative genetics of resistance to potyviruses between tomato and pepper was investigated. Unlike most of the comparative genetic studies on resistance genes, pot-1 was tightly flanked by the same restriction fragment length polymorphism (RFLP) markers than the pvr2/pvr5 locus for resistance to PVY and TEV from pepper. These results may indicate that recessive resistance genes against potyviruses evolve less rapidly than the majority of the dominant genes cloned so far, and consequently may belong to a different family of resistance genes.
Journal Article↗
The time of detection of recessive visible genes with non-random mating.
Expressions for the probability and average time of detection of a recessive visible gene in populations where there is partial selfing or partial full-sib mating are presented. A small increase in the proportion of inbred matings greatly reduces the average time until detection and increases the proportion detected. Unless the proportion of inbred matings or the population size is very small, the time and proportion detected are approximately independent of the population size.
Crosses, Genetic↗
[Inheritance of stripe rust resistance in the native wheat variety Dazicao from China].
Dazicao, a native wheat variety with stripe rust resistance from Henan, China, was crossed with susceptible cultivar Mingxian 169 as the female parent. The F(1) progeny was selfed to produce F(2) progeny and backcrossed with Mingxian 169 to produce BC(1) progeny. In air-conditioned greenhouse,seedlings of the F(1), F(2), BC1 progenies and their parents were inoculated with the prevalent races CY28 and CY32 of Puccinia striiformis respectively. The phenotypes of the F(1), F(2) and BC(1) plants were analyzed for resistance to the two races. The results indicated that the resistance in the Dazicao to race CY32 was controlled by one recessive gene,and the resistance to race CY28 by complementary action of one dominant gene and one recessive gene.
English Abstract↗
Genetic Ancestry and Carrier Variant Frequency Enrichment in a Colombian Andean Population: Insights From the Eje Cafetero.
Colombia is one of the most genetically diverse populations in Latin America, and its demographic process has promoted the persistence and local enrichment of deleterious alleles, increasing the frequency of autosomal recessive disorders, particularly in semi-isolated Andean populations such as the Eje Cafetero. However, exome-based reference data from this region remain scarce, limiting ancestry-aware variant interpretation and carrier screening strategies. We aimed to characterize the ancestry proportions of this population using exome data, and to estimate the carrier frequency and distribution of pathogenic and likely pathogenic (P/LP) variants in clinically relevant recessive genes. We conducted a cross-sectional study with whole-exome sequencing (WES) in 316 unrelated individuals from the Colombian Eje Cafetero. P/LP variants were evaluated in 454 genes associated with autosomal recessive disorders. The global ancestry proportions were estimated using a validated panel of 250 exome-compatible ancestry-informative markers. Carrier frequencies were compared against Non-Finnish Europeans (NFE) and Admixed Americans (AMX) from gnomAD v4. The cohort showed predominant European ancestry (mean 51%), followed by Native American (36%) and African (13%) components. We identified 151 carriers of 89 distinct pathogenic variants across autosomal recessive genes. The most frequent variants were SERPINA1 c.863A>T (5.5%), CFTR c.1210-11T>G (3.5%), and PYGM c.1094C>T (1.5%). Also, recurrent variants were significantly enriched compared with both NFE and AMX populations, supporting regional founder effects. This study represents one of the most comprehensive exome-based genetic characterizations of the Colombian Eje Cafetero, revealing ancestry-specific enrichment of clinically relevant autosomal recessive variants driven by founder effects.
Female↗