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PubMed2006

Intralocus sexual conflict diminishes the benefits of sexual selection.

Evolution based on the benefits of acquiring "good genes" in sexual selection is only plausible with the reliable transmission of genetic quality from one generation to the next. Accumulating evidence suggests that sexually antagonistic (SA) genes with opposite effects on Darwinian fitness when expressed in the two different sexes may be common in animals and plants. These SA genes should weaken the potential indirect genetic benefits of sexual selection by reducing the fitness of opposite-sex progeny from high-fitness parents. Here we use hemiclonal analysis in the fruit fly, Drosophila melanogaster, to directly measure the inheritance of fitness across generations, over the entire genome. We show that any potential genetic benefits of sexual selection in this system are not merely weakened, but completely reversed over one generation because high-fitness males produce low-fitness daughters and high-fitness mothers produce low-fitness sons. Moreover, male fitness was not inherited by sons, consistent with both theory and recent evidence connecting this form of SA variation with the X chromosome. This inheritance pattern may help to explain how genetic variation for fitness is sustained despite strong sexual selection, and why the ZW sex chromosome system found in birds and butterflies appears to foster the evolution of extreme secondary sexual characters in males.

Adaptation, Physiological↗
PubMed2005

No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome.

It has been hypothesized that two mutations in one gene are not sufficient and that three mutations between two genes are required for penetrance in some cases of Bardet-Biedl syndrome (the so-called "triallelic inheritance" model). McKusick-Kaufman syndrome (MKS) is allelic to one form of Bardet-Biedl syndrome (BBS). We describe an Amish family with MKS, where three children were affected with homozygous MKKS (BBS6) mutations (H84Y and A242S on both alleles), their father was a carrier, and their mother was homozygous for the same MKKS mutations, but she was non-penetrant. Genotyping and/or sequencing of BBS1, BBS2, BBS3, BBS4, BBS5, BBS7, and BBS8 excluded "triallelic inheritance" for each gene either by an incompatible inheritance pattern or an absence of mutations in the coding region and the intronic splice junctions of these genes. We conclude that the "triallelic" model does not explain the incomplete penetrance of MKS.

Abnormalities, Multiple↗
PubMed2004

Mechanisms of non-Mendelian inheritance in genetic disease.

Single gene disorders with Mendelian inheritance patterns have contributed greatly to the identification of genes and pathways implicated in genetic disease. In these cases, molecular analysis predicts disease status relatively directly. However, there are many abnormalities which show familial recurrence and have a clear genetic component, but do not show regular Mendelian segregation patterns. Defining the causative gene for non-Mendelian diseases is more difficult, and even when the underlying gene is known, there is uncertainty for prenatal prediction. However, detailed examination of the different mechanisms that underlie non-Mendelian segregation provides insight into the types of interaction that regulate more complex disease genetics.

Genetic Diseases, Inborn↗
PubMed2007

Inheritance of progeny sex ratio in Urtica dioica.

Seed samples collected from female Urtica dioica plants in the field showed considerable inter-family variation in the sex ratio (faction of males). To investigate the inheritance pattern of the sex ratio trait, crosses were performed between individual male and female plants from different sex ratio families. Our results suggest, at least for the families studied here, that maternal parents strongly contribute to the variation in the primary sex ratio. Furthermore, progeny sex ratios from reciprocal crosses were significantly different and resembled the sex ratios produced by their maternal parents. We discuss the possible mechanisms underlying maternal control.

Biological Evolution↗
PubMed2005

Genetic counseling issues in urea cycle disorders.

The goal of counseling families that have a urea cycle disorder (UCD) is to facilitate the process of scientific understanding, emotional acceptance, and decision-making in a nondirective way. A proper understanding of the genes involved, inheritance patterns, available testing, and complicating factors is critical to serving the families' needs. This article summarizes the needed information, in particular describing the complexities of prenatal testing and counseling issues for each UCD. Included case histories illustrate the genetic counseling process and the decision-making scenarios for two families.

Adult↗
PubMed2006

Introduction to genetics for otorhinolaryngology nurses.

Advances in human genetics have led to considerable changes in the way health professionals, especially nurses, understand and care for their patients. This article is focused on the clinical implications of genetic aspects of conditions of the head and neck, written for otorhinolaryngology (ORL) and head-neck nurses, but relevant for other nurses as well. This article presents information about basic inheritance patterns (autosomal dominant and recessive, X-linked, and mitochondrial) and compares single-gene disorders to complex or mutifactorial diseases. Cleft lip and palate disorders (Robin sequence and Van der Woude syndrome) and other craniofacial conditions (craniosynostosis, Treacher-Collins syndrome, and velo-cardio-facial syndrome) are discussed along with non-syndromic and syndromic hearing loss. Discussion of the psychosocial aspects of genetic conditions of the head and neck and a glossary of genetic terms are included.

Cleft Lip↗
PubMed2004

Sex-linked inheritance of hearing and song in the Belgian Waterslager canary.

Belgian Waterslager canaries have less sensitive hearing at high frequencies and produce songs with more energy at low frequencies than wild-type canaries. A backcross pedigree between Belgian Waterslager canaries and a domestic strain with wild-type song revealed inheritance patterns consistent with a factor of major effect located on the Z sex chromosome affecting both poor high-frequency hearing at 4 kHz and the relative energy in the spectra of the learned songs of males. Hearing thresholds at 4 kHz were significant predictors of the relative amount of song energy at 4 kHz for individual males. One hypothesis for the mechanistic basis of this correlation between hearing and song abnormalities is that a reduction in the ability to hear higher-frequency songs biases males towards learning lower-frequency songs.

Animals↗
PubMed2006

Genetic evidence for gametophytic selection of wilt resistant alleles in chickpea.

Gametophytic selection can drastically reduce the number of selection cycles during crop improvement programs. The objective of the present investigation was to test whether the nature of inheritance of two unlinked disease-resistant loci, h(1) and h(2), against Fusarium wilt in chickpea (Cicer arietinum L.) under gametophytic (pollen) selection was similar to that already observed at sporophytic level. A homozygous dominant (H(1)H(1)H(2)H(2)) susceptible genotype JG-62 was crossed to a recessive (h(1)h(1)h(2)h(2)) resistant genotype WR-315 to produce 20 F(1) hybrid seeds. In the following generation, flower buds of 10 F(1) hybrid plants were subjected to toxin stress before anthesis and the remaining ten control F(1) plants' flowers were sprayed with water. Thirty-four selected BC(1) plants were generated by test crossing resistant WR-315 individuals with pollen from toxin-stressed F(1) individuals. Both control and treated F(1) plants were selfed to produce respective F(2) generations. Two DNA markers, CS-27(700bp) and A07C(430bp), linked to susceptible alleles H(1) and H(2), respectively, were used to study the inheritance patterns of h(1) and h(2) loci in the F(2) and BC(1) generations. One hundred and forty-four selected F(2), 129 control F(2), and 34 selected backcross individuals were tested for the presence or absence of DNA markers. Except for the control F(2), observed ratios of selected F(2) and BC(1) populations exhibited significant chi-square deviations from expected monogenic and digenic ratios. Our results suggest that gametophytic selection is as effective as that realized at the sporophytic level, and that the gametophytic selection can be an effective breeding tool for plant breeding programs.

Agriculture↗
PubMed2006

Complete maternal inheritance of bifenazate resistance in Tetranychus urticae Koch (Acari: Tetranychidae) and its implications in mode of action considerations.

Bifenazate is a selective hydrazine carbazate acaricide launched in 1999 and reported to be neurotoxic, since preliminary studies on the mode of action suggested that bifenazate may act on GABA-gated chloride channels. However, this information has not yet been supported by mechanistic studies. Therefore bifenazate is still considered as a neuronal inhibitor, but with unknown mode of action. Here we report an alternative hypothesis on the mode of action of bifenazate, i.e. its possible interference with a non-neuronal target site. An acaricide susceptible strain of Tetranychus urticae Koch (Acari: Tetranychidae), LS-VL, was artificially selected for bifenazate resistance, and after 36 generations an extremely high resistance ratio (RR) of >164,000 was obtained. This bifenazate-resistant strain (BR-VL) lacks cross-resistance to many different chemical classes and modes of action of other acaricides. In order to check for metabolic resistance mechanisms, synergists known to inhibit well-known detoxification routes were used together with in vitro enzymatic assays. No synergism or highly increased detoxification activity was observed in the resistant strain. However, the organophosphorous esterase inhibitor S,S,S-tributylphosphorotrithioate (DEF) applied to the susceptible strain could completely antagonise the acaricidal efficacy of bifenazate, suggesting that bifenazate is a pro-acaricide, not active by itself, that needs in vivo activation by esterases. Reciprocal crosses of diploid females and haploid males of strains LS-VL (susceptible) and BR-VL (bifenazate resistant) revealed that bifenazate resistance was inherited completely maternally, i.e. resistance is fully dominant when susceptible males were crossed with resistant females, and fully recessive when resistant males were crossed with susceptible females. Such an inheritance pattern has to our knowledge never been observed before in the case of insecticide/acaricide resistance. This observation may suggest a target-site for bifenazate encoded by the mitochondrial genome. Further evidence supporting such a hypothesis was obtained when measuring the ATP-level in spider mites treated with bifenazate. The ATP content in bifenazate treated mites declined progressively between 0 and 4h after treatment, similarly to mites treated with the complex I inhibitor fenpyroximate, an acaricide known to interfere with mitochondrial function. The obtained results suggest a target-site other than GABA-gated chloride channels, most likely encoded by and located in the mitochondria.

Adenosine Triphosphate↗
PubMed2003

Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease.

Familial clustering of malignancies provides a unique opportunity to identify molecular causes of cancer. Polycythemia vera (PV) is a myeloproliferative disorder due to an unknown somatic stem cell defect that leads to clonal myeloid hyperproliferation. We studied 6 families with PV. The familial predisposition to PV appears to follow an autosomal dominant inheritance pattern with incomplete penetrance. All examined females informative for a transcriptional clonality assay had clonal hematopoiesis. We excluded linkage between PV and a number of previously proposed candidate disease loci (c-mpl, EPOR, 20q, 13q, 5q, 9p). Therefore, mutations at these loci are unlikely primary causes of familial PV. The finding of erythropoietin-independent erythroid progenitors in healthy family members indicated the presence of the PV stem cell clone in their hematopoiesis. This finding, together with clonal hematopoiesis in the affected individuals, supports the hypothesis of multiple genetic defects involved in the early pathogenesis of PV.

Adult↗
PubMed2026

Familial short stature: genetic architecture, risk stratification, and precision management.

BACKGROUND: Familial short stature (FSS) has traditionally been considered a benign growth pattern characterized by short stature clustering within families and has often been regarded as a normal variant of growth. However, recent advances in genomic technologies have demonstrated that a subset of children presenting with an FSS phenotype harbor identifiable monogenic variants, particularly in genes involved in growth plate development and skeletal growth. These findings challenge the traditional phenotype-based understanding of FSS and support an etiology-oriented diagnostic framework. OBJECTIVE: To summarize current knowledge regarding the genetic architecture of FSS, review existing clinical risk stratification frameworks for genetic evaluation, and evaluate available evidence regarding treatment outcomes across different genetic etiologies. METHODS: A literature search was performed in PubMed, Embase, and Web of Science from inception to May 2026, using keywords including "familial short stature," "familial idiopathic short stature," "genetic testing," "ACAN," "SHOX," and "NPR2". Relevant original studies and review articles addressing genotype-phenotype correlations, diagnostic yield of genetic testing, or responses to recombinant human growth hormone (rhGH) therapy were considered. RESULTS: Emerging evidence indicates that monogenic variants can be identified in a subset of children with an FSS phenotype, especially among those with more severe short stature and autosomal dominant inheritance patterns. Variants affecting growth plate biology represent some of the most frequently reported genetic causes of FSS, with ACAN, SHOX, and NPR2 being the most frequently implicated genes. Existing clinical frameworks based on parental height patterns and inheritance characteristics may help stratify patients with FSS according to the likelihood of monogenic etiology and guide selection of individuals who may benefit from genetic testing. Available evidence suggests that rhGH therapy may improve growth outcomes in several monogenic forms of FSS, although treatment responses vary according to genetic etiology. CONCLUSIONS: FSS should be regarded as a heterogeneous clinical phenotype rather than a single diagnostic entity. Integration of existing clinical risk stratification approaches with molecular diagnosis may enable more precise identification of underlying genetic causes and facilitate individualized therapeutic decision-making. Future advances in FSS management will likely depend on precision medicine approaches linking phenotype, genotype, and treatment response.

Humans↗
PubMed1994

Influence of HLA antigens on reproduction among Japanese population: study of haplotypes in 247 families.

Although an increased incidence of shared HLA antigens among couples experiencing recurrent spontaneous abortion or infertility has been observed, antigenic effects remain to be clarified. These effects, which are suspected to exist among fertile couples, were examined in this study. A group of 247 healthy Japanese families and their 682 children, whose HLA antigen haplotypes could be determined, were studied. Haplotypes of the fathers were compared with those of the mothers, and the combination of HLA antigens in the A, B, C and DR loci was determined as antigenic patterns against the mother. Patterns inherited by children were examined and deviations of the patterns were studied according to the natural rule that either of the haplotypes should be inherited at equal rates. Lower rates of children with antigens common with those of the mother, which may show a result of reproductive selection, were observed among only the first born children in the A (p < 0.05) and DR loci (p < 0.01), but rates similar to those expected were observed among the second born and later children. Lower rates were also observed in the B and C loci among all children with no significant difference between groups of the children. The necessity of differing antigenic factors in order to achieve pregnancy in the population was shown. Important effects of HLA antigenicity in reproductive failure are suggested.

Adult↗
PubMed2001

Clinical and molecular studies in a family with probable X-linked dominant Charcot-Marie-Tooth disease involving the central nervous system.

OBJECTIVE: To investigate the clinical and molecular characteristics of an apparently X-linked dominant form of Charcot-Marie-Tooth (CMT) disease in a family with central nervous system involvement and additional features. BACKGROUND: Charcot-Marie-Tooth disease may be inherited as an autosomal dominant, autosomal recessive, or X-linked trait. In the X-linked dominant form of CMT, females demonstrate milder clinical and electrophysiological features compared with their male relatives. METHODS: Clinical and related examinations were performed in 4 affected individuals from a family with a novel form of CMT affecting males more severely than females. DNA analysis of the connexin 32 (Cx32) gene and proteolipid protein (PLP) gene was performed. We genotyped 3 members of the family to determine which regions of the X chromosome were inherited discordantly in the affected and unaffected brothers. RESULTS: Clinical studies revealed significant spasticity, hyperreflexia, and delayed central conduction, in addition to peripheral neuropathy. Nerve conduction velocities were slower in the affected males than in the affected females. Direct DNA sequencing of the Cx32 coding region and neural-specific promoter were normal. A PLP null mutation was excluded. Levels of very long chain fatty acids were normal. Genotyping studies of the X chromosome supported X-linked inheritance of the neuropathy. CONCLUSIONS: This family differs from others with hereditary motor and sensory neuropathic diseases by the presence of upper motor neuron signs and additional features. The clinical features and inheritance pattern are consistent with X-linked dominant inheritance or autosomal dominant inheritance.

Adult↗
PubMed2000

Incomplete penetrance of MHC susceptibility genes: prospective analysis of polygenic MHC-determined traits.

We propose an approach to understanding incomplete penetrance of disease susceptibility genes as a method of studying the underlying mechanisms of polygenic diseases. Incomplete penetrance is the failure of genetically susceptible individuals to exhibit a trait. We define as baseline penetrance that which occurs in genetically identical (monozygotic) twins of an index subject with a major histocompatibility complex (MHC)-associated disease or trait. We consider two mechanisms for incomplete baseline penetrance: an extrinsic (environmental) trigger and an intrinsic stochastic, gene-associated process. The latter can be detected for dominant expression because susceptibility genes in homozygotes (with their two intrinsic triggers) will be up to twice as frequently penetrant as those in heterozygotes. The extent of MHC and non-MHC gene contribution determines differences between baseline penetrance and apparent penetrance in MHC-identical sib pairs, sib pairs in general and MHC-identical unrelated individuals. Inheritance patterns in families do not reveal modes of inheritance of incompletely penetrant polygenic MHC-determined traits. A method is proposed to study such traits prospectively in persons presumed to be homozygous, heterozygous or non-carrying for susceptibility genes by determining trait expression in homozygotes, heterozygotes or non-carriers of trait-associated conserved extended MHC haplotypes. The method provides direct estimates of apparent penetrance rates, modes of genetic determination, and, if the trait is dominant, the origin of penetrance. When applied to dominant MHC susceptibility gene-determined immunoglobulin deficiencies in two populations, the ratios of affected haplotype homozygotes to heterozygotes near 2.0 were consistent with an intrinsic mechanism for baseline penetrance acting on the MHC susceptibility genes.

Environment↗
PubMed1976

A genetic polymorphism in the constant region of rabbit b4 kappa chains.

Amino acid sequence analysis of a b4 light chain from a rabbit homogeneous antistreptococcal antibody revealed the presence of two amino acid substitutions in the constant region not previously reported for these positions. These interchanges, consisting of serine for alanine at position 121 and leucine for glutamine at position 124, were also present in about 30% of the pooled b4 light chains isolated from pooled IgG from the rabbit (4539) that produced the homogeneous antibody. In addition, these interchanges (b4var) were found, always at the same levels, in varying percentages in nonimmune or early immune bleedings from related rabbits in this pedigreed family and could be traced for five generations. The inheritance pattern of b4var was consistent with autosomal codominant inheritance.

Amino Acid Sequence↗
PubMedDate not supplied

Production of androgenetic diploid rainbow trout.

Haploid androgenesis was induced in rainbow trout (Salmo gairdneri) when eggs were irradiated with 60Co gamma radiation prior to fertilization. Diploidy was restored to the androgenetic haploid zygotes by suppression of first cleavage division using hydrostatic pressure. Peak survival in the androgenetic diploid lots (32.5-38.9 percent of control) occurred when a pressure shock of 9000 pounds per square inch lasting from one to three minutes was applied to the eggs 345 minutes post-fertilization. Chromosomal analysis confirmed diploidy in the androgenetic individuals and suggested that YY rainbow trout are viable to at least the "eyed stage" of development. Inheritance patterns at two loci confirmed all-paternal inheritance. The relatively high yields of completely homozygous androgenetic rainbow trout and the potential for the use of androgenesis in the production of inbred lines and in genetic studies indicate that androgenesis may become a valuable tool in fish research and breeding.

Animals↗
PubMed2001

Selected contribution: variation in acute hypoxic ventilatory response is linked to mouse chromosome 9.

Genetic determinants confer variation among inbred mouse strains with respect to the magnitude and pattern of breathing during acute hypoxic challenge. Specifically, inheritance patterns derived from C3H/HeJ (C3) and C57BL/6J (B6) parental strains suggest that differences in hypoxic ventilatory response (HVR) are controlled by as few as two genes. The present study demonstrates that at least one genetic determinant is located on mouse chromosome 9. This genotype-phenotype association was established by phenotyping 52 B6C3F2 (F2) offspring for HVR characteristics. A genome-wide screen was performed using microsatellite DNA markers (n = 176) polymorphic between C3 and B6 mice. By computing log-likelihood values (LOD scores), linkage analysis compared marker genotypes with minute ventilation (&Vdot;E), tidal volume (VT), and mean inspiratory flow (VT/TI, where TI is inspiratory time) during acute hypoxic challenge (inspired O2 fraction = 0.10, inspired CO2 fraction = 0.03 in N2). A putative quantitative trait locus (QTL) positioned in the vicinity of D9Mit207 was significantly associated with hypoxic VE (LOD = 4.5), VT (LOD = 4.0), and VT/TI (LOD = 5.1). For each of the three HVR characteristics, the putative QTL explained more than 30% of the phenotypic variation among F(2) offspring. In conclusion, this genetic model of differential HVR characteristics demonstrates that a locus approximately 33 centimorgans from the centromere on mouse chromosome 9 confers a substantial proportion of the variance in VE, VT, and VT/TI during acute hypoxic challenge.

Acute Disease↗