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Significant evidence of one or more susceptibility loci for endometriosis with near-Mendelian inheritance on chromosome 7p13-15.

BACKGROUND: Endometriosis is a common disease with a heritable component. The collaborative International Endogene Study consists of two data sets (Oxford and Australia) comprising 1176 families with multiple affected. The aim was to investigate whether the apparent concentration of cases in a proportion of families could be explained by one or more rare variants with (near-)Mendelian autosomal inheritance. METHODS AND RESULTS: Linkage analyses (aimed at finding chromosomal regions harbouring disease-predisposing genes) were conducted in families with three or more affected (Oxford: n = 52; Australia: n = 196). In the Oxford data set, a non-parametric linkage score (Kong & Cox (K&C) Log of ODds (LOD)) of 3.52 was observed on chromosome 7p (genome-wide significance P = 0.011). A parametric MOD score (equal to maximum LOD maximized over 357 possible inheritance models) of 3.89 was found at 65.72 cM (D7S510) for a dominant model with reduced penetrance. After including the Australian data set, the non-parametric K&C LOD of the combined data set was 1.46 at 57.3 cM; the parametric analysis found an MOD score of 3.30 at D7S484 (empirical significance: P = 0.035) for a recessive model with high penetrance. Critical recombinant analysis narrowed the probable region of linkage down to overlapping 6.4 Mb and 11 Mb intervals containing 48 and 96 genes, respectively. CONCLUSIONS: This is the first report to suggest that there may be one or more high-penetrance susceptibility loci for endometriosis with (near-)Mendelian inheritance.

Australia↗

Inheritance of resistance to Bacillus thuringiensis Cry1Ac toxin in a greenhouse-derived strain of cabbage looper (Lepidoptera: Noctuidae).

A population of cabbage looper, Trichoplusia ni (Hübner), collected from commercial greenhouses in the lower mainland of British Columbia, Canada, in 2001 showed a resistance level of 24-fold to Dipel, a product of Bacillus thuringiensis (Bt) subspecies kurstaki. This population was selected with Cry1Ac, the major Bt Cry toxin in Dipel, to obtain a homogenous population resistant to Cry1Ac. The resulting strain of T. ni, named GLEN-Cry1Ac, was highly resistant to Cry1Ac with a resistance ratio of approximately 1000-fold. The larvae from the GLEN-Cry1Ac strain could survive on Cry1Ac-expressing transgenic broccoli plants that were highly insecticidal to T. ni and diamondback moth, Plutella xylostella (L.). The inheritance of Cry1Ac resistance in this T. ni strain was autosomal and incompletely recessive. The degree of dominance of the resistance was -0.402 and -0.395, respectively, for the neonates in reciprocal crosses between the GLEN-Cry1Ac and a laboratory strain of T. ni. Using chi2 goodness-of-fit test, we demonstrated that the inhibition of larval growth resulting from testing 12 toxin doses in the progeny of the backcross fit the predicted larval responses based on a monogenic inheritance model. Therefore, we conclude that the inheritance of the resistance to Cry1Ac in the T. ni larvae is monogenic.

Animals↗

Inheritance of unique fruit and foliage color mutation in NuMex piñata.

The inheritance of mature fruit color in peppers (Capsicum spp.) is controlled by several genes. However, the inheritance of the transition of colors the fruit undergo during ripening has not been described extensively. The authors describe the inheritance of a unique gene which affects foliage color and fruit color transition occurring in the jalapeño cultivar NuMex Piñata. The gene responsible is designated the tra gene.

Capsicum↗

Single-locus inheritance in the allotetraploid Coffea arabica L. and interspecific hybrid C. arabica x C. canephora.

Molecular cytogenetic analysis has indicated that Coffea arabica is an amphidiploid formed from the hybridization between two closely related diploid progenitor species, C. canephora and C. eugenioides. Our aim was to determine the mode of inheritance in C. arabica and in a tetraploid interspecific hybrid (called arabusta) between C. arabica and C. canephora as revealed by segregation analyses of restriction fragment length polymorphism (RFLP) loci markers. The observed RFLP allele segregations in an F(2) progeny of C. arabica conform to disomic inheritance as expected, with regular bivalent pairing of homologous chromosomes in the F1 hybrid. In contrast, RFLP loci followed tetrasomic inheritance in the arabusta interspecific hybrid, although bivalents have been reported to predominate greatly at meiosis in its hybrid. These results suggest that homologous chromosomes do not pair in C. arabica, not as a consequence of structural differentiation, but because of the functioning of pairing regulating factors. Moreover, the arabusta hybrid seems to offer the possibility of gene exchange between the homologous genomes.

Alleles↗

Inheritance of the general shell color in the scallop Argopecten purpuratus (Bivalvia: Pectinidae).

Although some external coloration and pigmentation patterns in molluscan shells may be attributable to environmental factors, most variation in these phenotypic characters depends on uncomplicated genetic mechanisms. Genetic research on inheritance of color variations in the north-Chilean scallop (Argopecten purpuratus) has now been expanded to analyze color segregation in juvenile scallops produced under controlled conditions employing self- and cross-fertilization. Calculations from the results were used for comparison with different numerical models based on Mendelian inheritance, and results were also obtained on the inheritance of a dorsoventral white line often observed on the left (upper) valve in this species. The results confirmed the hereditary basis for color variation in the shell of this scallop, suggesting a simple, dominant model of epistasis to explain the distribution of the different color variants observed (purple, brown, orange, yellow, and white). The presence of the white line may be controlled by a recessive allele with simple Mendelian traits on a locus distinct from those that control color variation.

Animals↗

Chloroplast DNA inheritance in the orchid Anacamptis palustris using single-seed polymerase chain reaction.

The modality of chloroplast inheritance in orchids has been investigated only in a few species due to the difficulties associated with the analysis of large progeny numbers from experimental crosses. To test chloroplast DNA inheritance in the orchid Anacamptis palustris, we took advantage of the presence of a highly variable minisatellite repeat located in the tRNA(LEU) intron in the chloroplast genome. Seed progeny obtained from experimental crosses between parental individuals carrying different chloroplast DNA (cpDNA) minisatellite repeat numbers were analyzed using a single-seed polymerase chain reaction (PCR) protocol. All examined seeds displayed the maternal cpDNA haplotypes, indicating that cpDNA inheritance is strictly maternal in this Mediterranean orchid species. No evidence for paternal leakage was found. This finding concurs with results obtained from PCR amplifications of pollen massulae that exclude the presence of chloroplast DNA in the pollen tetrads.

Crosses, Genetic↗

Qualitative inheritance of rind pattern and flesh color in watermelon.

Watermelon [Citrullus lanatus (Thunb.) Matsum. & Nakai var. lanatus] is a diverse species, with fruits of different sizes, shapes, rind patterns, and flesh colors. This study measured the inheritance of novel rind phenotypes and verified the genetics of white, red, salmon yellow, and canary yellow flesh colors. For each of the 11 crosses, six generations (P(a)S1, P(b)S1, F1, F2, BC1P(a), and BC1P(b)) were produced to form 11 families. Three new genes were identified and designated as follows: Scr for the scarlet red flesh color of Dixielee and Red-N-Sweet, Yb for the yellow belly (ground spot) of Black Diamond Yellow Belly, and ins for the intermittent stripes of Navajo Sweet. The inheritance of the C gene for the canary yellow flesh color was verified as single dominant, and a new inbred type line was developed possessing that gene. Aberrations in the segregation of red, white, and salmon yellow flesh colors were recorded, raising questions on the inheritance of these traits. Finally, the spotted phenotype from Moon and Stars was combined with light green and gray rind patterns for the development of novel cultivars with distinctive rind patterns.

Breeding↗

CAG trinucleotide repeats in the androgen receptor gene of infertile men exhibit stable inheritance in female offspring conceived after ICSI.

The androgen receptor (AR) gene is located on the X chromosome and contains a polymorphic CAG tract. CAG repeat expansions in the AR have been associated with male infertility and the neuromuscular disease, spinal bulbar muscular atrophy (SBMA). Based on Mendelian inheritance patterns, moderate CAG expansions in infertile men treated by intracytoplasmic sperm injection (ICSI) would be vertically transmitted to female offspring. Should further elongation of the repeat region occur in the male germline, it is conceivable that longer expansions could also be transmitted by ICSI and may lead to an increased incidence of male infertility and SBMA in succeeding generations. To determine the degree of stability of the paternal AR CAG tract following ICSI, we compared the CAG repeat number in the AR alleles of 92 men presenting for ICSI and their 99 ICSI-conceived daughters. CAG repeat lengths in the AR alleles were determined by fluorescent polymerase chain reaction and Genescan analysis of amplification products separated on DNA sequencing gels. In the vast majority of cases (95 out of 99), we found that the AR CAG tracts ranging in size from 15-28 repeats exhibited stable inheritance in female offspring. However, in the remaining father-daughter pairs, there was a discordance in the expected inheritance pattern with evidence for both CAG expansion (20-->24; 22-->23) and contraction (26-->18 or 22) of the paternal AR allele. The detection of a low frequency of CAG mutation in paternal AR alleles following ICSI would be consistent with gonadal mosaicism originating from meiotic DNA replication errors. These findings in a typical group of infertile men undergoing ICSI for a variety of indications tend to alleviate concerns that ICSI may promote the transmission of AR alleles with expanded CAG tracts and suggest that the risk of SBMA in second generation sons would be extremely low.

Female↗

The ribosomal RNA gene promoter and adjacent cis-acting DNA sequences govern plasmid DNA partitioning and stable inheritance in the parasitic protozoan Leishmania.

Detailed analysis of the Leishmania donovani ribosomal RNA (rRNA) gene promoter region has allowed the identification of cis-acting sequences involved in plasmid DNA partitioning and stable plasmid inheritance. We report that plasmids bearing the 350 bp rRNA promoter along with the 200 bp region immediately 3' to the promoter exhibited a 6.5-fold increase in transformation frequency and were transmitted to daughter cells as single-copy molecules. This is in contrast to what has been observed for plasmid molecules in this organism so far. Moreover, we show that these low-copy-number plasmids displayed a remarkable mitotic stability in the absence of selective pressure. The region in the vicinity of the RNA pol I transcription initiation site, and also in the adjacent 200 nt, displays a complex structural organization and shares sequence similarity to the yeast autonomously replicating consensus sequence and centromere DNA elements. Deletion analyses indicated that these elements were necessary but not sufficient for plasmid DNA partitioning and stable inheritance, and that the rRNA promoter region was required for optimal function. These results suggest an interplay between RNA pol I transcription, DNA replication, DNA partitioning and mitotic stability in trypanosomatids. This is the first example of defined DNA elements for plasmid partitioning and stable inheritance in the protozoan parasite Leishmania.

Animals↗

OMIA (Online Mendelian Inheritance in Animals): an enhanced platform and integration into the Entrez search interface at NCBI.

Online Mendelian Inheritance in Animals (OMIA) is a comprehensive, annotated catalogue of inherited disorders and other familial traits in animals other than humans and mice. Structured as a comparative biology resource, OMIA is a comprehensive resource of phenotypic information on heritable animal traits and genes in a strongly comparative context, relating traits to genes where possible. OMIA is modelled on and is complementary to Online Mendelian Inheritance in Man (OMIM). OMIA has been moved to a MySQL database at the Australian National Genomic Information Service (ANGIS) and can be accessed at http://omia.angis.org.au/. It has also been integrated into the Entrez search interface at the National Center for Biotechnology Information (NCBI; http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=omia). Curation of OMIA data by researchers working on particular species and disorders has also been enabled.

Animals↗

Teaching Mendelian inheritance with a herediscope.

The herediscope is a useful teaching aid. Unlike some of the more sophisticated new computer teaching aids it clearly demonstrates Mendelian inheritance and sampling variation. The herediscope is easy to construct and costs little. Students can perform numbers of trials, and quickly demonstrate to themselves the variability associated with Mendelian inheritance for both single and multiple qualitative traits, and multigene quantitative traits. Instructors should consider the use of the herediscope as a possible teaching aid when teaching Mendelian inheritance.

Genetics↗

Single gene inheritance of occurrence of head spots in mice.

Results from earlier selection studies indicated that while the size of head spots in mice descended from the Goodale head-spot strain was a quantitative, polygenic trait, head-spot occurrence was probably a qualitative trait inherited by one or two genes. The present study was undertaken to examine this possibility by crossing a head-spot stock with three inbred strains and with two noninbred stocks carrying mutant genes. Observed segregation ratios in the F2 and backcross generations of these crosses were compared to results expected under various models of qualitative inheritance. Evidence of linkage between known loci and a putative head-spot gene also was sought. Results indicated that head spotting was inherited primarily by the action of a recessive autosomal gene, head spot (hs). The action of this gene was subject to modification, in some crosses, by other genes or by environmental factors. Attempts to demonstrate linkage between the head spots and known single-locus traits were unsuccessful.

Animals↗

Inheritance of vertical fiber hide defect in cattle.

Inheritance of vertical fiber hide defect (VFHD), a structural defect in collagen fiber orientation that causes weakness and reduced value of leather, was examined using histological data on hide biopsies obtained from 465 Hereford cattle by 65 sires. The data set included 44 offspring-dam pairs, for which VFHD phenotypes had been diagnosed on both the offspring and dam. Examination of offspring and parental frequency distributions indicated that inheritance of the condition was likely to be due to an autosomal recessive. In a subsequent experiment, a Hereford bull with a known VFHD phenotype was mated to Hereford cows with known VFHD phenotypes and to Angus cows not showing the defect. Angus were chosen because the defect has never been observed in the breed. All offspring (5) resulting from VFHD X VFHD matings expressed the defect, while no offspring (12) out of VFHD X non-VFHD matings (Angus cows) expressed the defect. It was concluded that VFHD is inherited as an autosomal recessive. The role that selection and alternative crossbreeding systems can play reducing phenotypic frequency of the defect is discussed.

Animals↗

Inheritance of retarded forebrain commissure development in fetal mice: results from classical crosses and recombinant inbred strains.

Deficiency of the adult corpus callosum in BALB/c mice shows incomplete penetrance and is clearly polygenic, whereas the defect in fetuses shows complete penetrance and a much less complex mode of inheritance. Retardation of the growth of the corpus callosum and the hippocampal commissure in the fetal mouse forebrain was expressed by a standard score (z) derived from body weight, such that a fetus with a score less than -2.0 was held to have commissures abnormally small for the body size. By this index, almost all C57BL/6 fetuses were normal, whereas BALB/c fetuses in the body weight range 0.5 to 1.0 g were often 5 standard deviations below the expected value of 0.0. In classical crosses between C57BL/6J and BALB/cWah, inheritance of the index of abnormality (z) was recessive, and about half of the fetuses in backcrosses to BALB/c were below -2.0. However, the distribution of scores was not bimodal. The results were consistent with a two-locus but not a single-locus difference between parent strains. Among the seven recombinant inbred strains derived from the By strains of C57BL/6 and BALB/c, there were three or possibly four distinct clusters of strains, which also suggested two-locus inheritance and excluded a single-locus difference. Although substantial retardation of commissure growth was evident in fetuses, deficiency or absence of the corpus callosum in weanling and adult By recombinant inbred mice was extremely rare in all strains except BALB/cByJ. These data confirm anatomical results showing that, in all but the most extremely retarded cases, the corpus callosum recovers from an obvious prenatal defect.

Agenesis of Corpus Callosum↗

Sexual maturation in Drosophila melanogaster females and hybridization with D. simulans males: a study of inheritance modes.

The inheritance mode of Drosophila melanogaster female sexual maturation speed and hybridization with D. simulans males was measured in F1 females from crosses between isofemale lines of D. melanogaster chosen for their high or low hybridization and maturation speed values. The results suggest dominant inheritance for rapid female maturation and intermediate inheritance for hybridization. We discuss results in relation to the evolutionary role of these characters.

Animals↗

Influence of parental genotype on plastid inheritance in Medicago sativa.

Research using chlorophyll-deficient mutants has shown that plastids are inherited biparentally in Medicago sativa L. (alfalfa). Variation in plastid transmission behavior was observed among crosses in earlier studies, but it was not determined whether this variation was under genetic control. In my research, genetic analyses of the frequencies of normal (G), chlorophyll-deficient (CD), and sectored (G and CD) progenies produced from G x CD crosses demonstrated that plastid inheritance patterns in alfalfa are influenced by both maternal and paternal genotypes. A strong paternal bias in plastid transmission existed in the majority of crosses despite the potential developmental disadvantages associated with paternally contributed CD plastids. The high frequencies of uniparental progenies suggest that genetic control of plastid inheritance in alfalfa may be exerted through effects on the number and distribution of maternal and paternal plastids early in embryo development.

Chlorophyll↗

Inheritance of renal amyloidosis in Chinese Shar-pei dogs.

Renal amyloidosis (RA) and recurrent fever of unknown origin (RFUO) are characteristics of familial Mediterranean fever (FMF), a human disorder inherited as an autosomal-recessive trait. Although no animal model has been established for FMF, a similar syndrome of RFUO and RA has been reported in Chinese Shar-pei (CSP) dogs. This report addresses two questions: (1) Is RA inherited in CSP dogs? (2) If it is, is it possible to hypothesize the type of inheritance involved? Two studies were conducted to answer these questions: a historical cross-sectional comparison, which included CSP and non-CSP dogs with RA; and a prospective study that included CSP dogs with RA, RFUO, or both. The cross-sectional comparison resulted in an odds ratio of 10 for RA in CSP dogs under 7 years of age. The prospective study of 28 dogs with RA or RFUO identified 20 that had RFUO and RA, three with RA alone, and five with RFUO alone. RFUO preceded RA in all cases with both conditions. The RFUO/RA combination was observed in both sexes. Four dogs with RFUO with or without RA were born to parents that either were alive at age 7 or had died because of conditions other than kidney failure/RA. When one parent was known to express one of these conditions, the prevalence of RA was between 25% and 50% among littermates.(ABSTRACT TRUNCATED AT 250 WORDS)

Amyloidosis↗

Ancient sex-specific extension of the cytochrome c oxidase II gene in bivalves and the fidelity of doubly-uniparental inheritance.

Bivalves of the families Mytilidae and Unionidae show a unique mode of mitochondrial DNA inheritance called doubly uniparental inheritance. In addition to receiving the maternally transmitted mtDNA lineage, males receive a separate mtDNA genome from their fathers. This system is sometimes compromised, in that female genomes are occasionally recruited into the male cycle of inheritance. These masculinization events are common in the Mytilidae but have not been reported in the Unionidae. In order to estimate the age of the male and the female lineages in the Unionidae and to look for evidence of masculinization, we sequenced the junction between the cytochrome c oxidase II gene and the cytochrome c oxidase I gene. The unionid male and female lineages diverged approximately 450 MYA. There is no evidence for masculinization during this period, suggesting that there are taxon-specific differences in the rate of masculinization. Coincidentally, a 200-codon extension of the COII gene is present in the male genome of the Unionidae and may be responsible for the absence of masculinization.

Amino Acid Sequence↗