Linkage relationship between retinoschisis and four marker loci

Summary The linkage relationship between the locus for juvenile retinoschisis (RS) and four X-chromosomal marker loci DXS9 (RC8), DXS16 (XUT23), DXS41 (99-6), and DXS43 (D2) has been studied in six families showing a history of this disease. Recombination with RS was found for all marker loci except DXS9. The maximum lod score is =2.66 for RS vs. SXS9 at a recombination fraction of =0.0. Multipoint linkage analysis was performed and the locus order best supported by our data is: RS-DXS9-DXS43-DXS16-DXS41.     

Linkage between the loci for transferrin and ceruloplasmin in pigs

Summary. Evidence for genetic linkage between the loci for transferrin ( Tf ) and ceruloplasmin ( Cp ) in pigs was presented. The results were based on a study of a single sire family comprising 35 informative offspring. No recombinants were observed. The recombination frequency was estimated to be in the range of 0 to 8%. This indicated that the recombination frequency between Tf and Cp loci in pigs may be much lower than that reported previously between these two loci in cattle and in human.     

Linkage between the loci for transferrin and ceruloplasmin in pigs

Evidence for genetic linkage between the loci for transferrin (Tf) and ceruloplasmin (Cp) in pigs was presented. The results were based on a study of a single sire family comprising 35 informative offspring. No recombinants were observed. The recombination frequency was estimated to be in the range of 0 to 8%. This indicated that the recombination frequency between Tf and Cp loci in pigs may be much lower than that reported previously between these two loci in cattle and in human.     

Linkage analysis of loci controlling blood groups and the rectovaginal constriction syndrome in Jersey cattle

The possibility of linkage between the recessive gene controlling the rectovaginal constriction (RVC) syndrome in Jersey cattle and 13 loci controlling blood groups and polymorphic proteins was studied. No evidence of close to moderate linkage was found between the RVC locus and any of the systems A, B, C, F, L, S, Z, R', Hb, Tf, Am-1 and Ca. No definite conclusion was possible with the M system.     

The genetics of position-effect variegation modifying loci in Drosophila melanogaster

Summary The dose dependent effects of position-effect variegation (PEV) modifying genes were studied in chromosome arms2L, 2R and3R. Four groups of PEV modifying genes can be distinguished: haplo-abnormal suppressor and enhancer loci with or without a triplo-effect. using duplications four triplo-abnormal suppressor and four triplo-abnormal enhancer functions were localized. In two cases we proved that these functions correspond to a converse haplo-abnormal one. Altogether 43 modifier loci were identified. Most of these loci proved not to display significant triplo-effects (35). The group of haplo-abnormal loci with a triplo-effect may represent genes which play an important role in heterochromatin packaging.     

Linkage mapping of quantitative trait loci controlling seed weight in pea (Pisum sativum L.)

Quantitative trait loci (QTLs) affecting seed weight in pea (Pisum sativum L.) were mapped using two populations, a field-grown F₂ progeny of a cross between two cultivated types (Primo and OSU442-15) and glasshouse-grown single-seed-descent recombinant inbred lines (RILs) from a wide cross between a P. sativum ssp. sativum line (Slow) and a P. sativum ssp. humile accession (JI1794). Linkage maps for these crosses consisted of 199 and 235 markers, respectively. QTLs for seed weight in the Primo x OSU442-15 cross were identified by interval mapping, bulked segregant analysis, and selective genotyping. Four QTLs were identified in this cross, demonstrating linkage to four intervals on three linkage groups. QTLs for seed weight in the JI1794 x Slow cross were identified by single-marker analyses. Linkage were demonstrated to four intervals on three linkage groups plus three unlinked loci. In the two crosses, only one common genomic region was identified as containing seed-weight QTLs. Seed-weight QTLs mapped to the same region of linkage group III in both crosses. Conserved linkage relationships were demonstrated for pea, mungbean (Vigna radiata L.), and cowpea (V. unguiculata L.) genomic regions containing seed-weight QTLs by mapping RFLP loci from the Vigna maps in the Primo x OSU442-15 and JI1794 x Slow crosses.     

Linkage between loci of quantitative traits and marker loci: multi-trait analysis with a single marker

An efficient approach to increase the resolution power of linkage analysis between a quantitative trait locus (QTL) and a marker is described in this paper. It is based on a counting of the correlations between the QTs of interest. Such correlations may be caused by the segregation of other genes, environmental effects and physiological limitations. Let a QT locus A/a affect two correlated traits, x and y. Then, within the framework of mixture models, the accuracy of the parameter estimates may be seriously increased, if bivariate densities f _aa(x, y), f _Aa(x, y) and f _AA(x, y) rather than the marginals are considered as the basis for mixture decomposition. The efficiency of the proposed method was demonstrated employing Monte-Carlo simulations. Several types of progeny were considered, including backcross, F₂ and recombinant inbred lines. It was shown that provided the correlation between the traits involved was high enough, a good resolution to the problem is possible even if the QTL groups are strongly overlapping for their marginal densities.     

Communication between the maternal testa and the embryo and/or endosperm affect testa attributes in tomato

Two tomato (Lycopersicon esculentum) mutants with dark testae displaying poor germination rate and percentage on both water and 100 microM gibberellin(4 + 7) were recovered. The mutants were allelic (black seed1-1; bks1-1 and bks1-2), inherited in Mendelian fashion as a recessive gene residing on chromosome 11. They are not allelic to bs (brown seed) -1, -2, or -4, which impair seed germination and possess dark testae. The bks/bs mutants accumulated dark pigment in the cell layers of the testa above the endothelium, which itself accumulated proanthocyanidins similar to wild type. The poor germination performance of bks mutant seeds was because of impediment of the mutant testae to radicle egress. Imbibition on gibberellin(4 + 7) did not ameliorate germination percentage or rate. The toughening of the bks testa and associated poor germination were partially overcome when seeds were not dried before germination or were dried under N(2). The seeds of the bks mutant have elevated activity of at least one enzyme responsible for the detoxification of reactive oxygen species. The bks mutant is epistatic to 12 anthocyaninless mutants of tomato. Bio- and physicochemical analysis of the bks testa determined that it accumulated a melanic substance. Inheritance of bks/bs mutations contrasts with that of the anthocyaninless mutants, which are inherited according to the genotype of the maternally derived testa. This suggests that the testa manufactures components before its demise that can maximize testa strength, whereas the endosperm/embryo produces factors that are conveyed to the testa, mitigating this process.     

Linkage relationships between regulatory and structural gene loci involved in zein synthesis in maize

Summary The synthesis of at least 15 zein polypeptides is under the control of regulatory gene loci. One of these, Opaque-2 (chromosome 7, position 16) strongly reduces the zein accumulation without modifying the zein molecular components. The linkage relationship between the regulatory gene 02 and the 5 structural loci (Zp1, Zp2, Zp3, Zp6, Zp12) segregating with sample Mendelian ratios have been studied. Zp1, Zp2, Zp3 are closely linked to each other; moreover this gene cluster is located on chromosome 7 at 5.5 cM from the Opaque-2 locus. The structural loci Zp6 and Zp12 are not linked with each other, with the 02 locus or with Zp1, Zp2, Zp3. From our data it follows that the zein structural genes are located in at least three positions on the maize genome. The scattering in the genome of the genes controlled by the Opaque-2 locus suggests a transacting role for this regulatory element.     

Linkage between quantitative trait loci and marker loci: resolution power of three statistical approaches in single marker analysis

This paper presents a comparison of three methods of parameter estimation in analysis of linkage between a quantitative trait locus (QTL) and a marker locus: maximum likelihood, mean square for trait cumulative distribution function, and method of moments, employing simulated backcross data. The sensitivity of estimates to violation of assumptions of normality and equal variances were also studied. Some measures of discrepancy between the trait distributions in the QTL groups are considered to evaluate the potential dependence of the resolution capacity of the QTL substitution effect with respect to trait mean value and variance.     

Third chromosome suppressor of position-effect variegation loci in Drosophila melanogaster

Summary As a result of a genetic analysis of 63 third chromosome suppressor mutations of position-effect variegation 12 different loci showing dominant suppression have been identified and their map positions determined. A compilcation of the genetic data available for each suppressor locus is given. The strong suppressor effects of the mutations have been quantified by measurements of white variegation inw ^m4h /w ^m4h ,w ^m4h /Y andw ^m4h /O flies. Mutant alleles of three loci were found in these studies to dominate over the strong enhancer effect of complete loss of the Y chromosome. Most of the identified loci suppressing position-effect variegation represent essential genetic funtions; only three loci represent nonessential functions. Mutations of two loci display recessive butyrate sensitivity and lethal interaction with the heterochromatic Y chromosome suggesting that these genes affect chromosomal condensation. Studies with deficiencies and triploids revealed that most of the loci represent haplo-abnormal suppressor functions. The use of the isolated mutant material for genetic, developmental and molecular studies of processes connected with gene inactivation in position-effect variegation is discussed.Dedicated to Prof. H.J. Becker on the occasion of his 6th birthday     

Linkage disequilibrium between two genetic loci of the major histocompatibility complex in rats

The major histocompatibility complex (MHC) in natural populations of rats is composed of genetic phenotypes that are similar, if not identical, to those seen in inbred laboratory strains. Examination of individual wild rats from a single location in the city of Pittsburgh, Pennsylvania, resulted in the identification of seven different RT1.A histocompatibility serotypes and three RT1.B mixed lymphocytes responses. In this population of animals there is a significant association (p < 0.005) between four RT1.A and RT1.B phenotypic pairs: RT1.A⁸B¹, RTl.A^kBⁿ, RTl.A^dB^a and RT1.A¹B^a. The observed values for linkage disequilibrium (0.211,0.076,0.070 and 0.085, respectively) are very high and are close to the maximum expected, given the individual allelic frequencies. Although the animals included in this study were obtained from one location, agreement with Hardy-Weinberg equilibrium is demonstrated for other loci in the same population. The demonstration of equilibrium suggests that significant inbreeding is not affecting this population of rats. Not enough is known about the allelic frequencies in surrounding rat populations to determine how important the effect of migration is on these disequilibrium values. The large linkage disequilibria may indicate that, in the rat, environmental selective forces are operating to ensure the nonrandom association of separate components of the MHC.     

Linkage heterogeneity between X-linked retinitis pigmentosa and a map of 10 RFLP loci.

In nine families in which X-linked retinitis pigmentosa (XLRP) is segregating, the lod scores of XLRP in a map of 10 RFLP loci were obtained by multipoint linkage analysis. The XLRP locus was located telomeric to DXS7 in seven of the families and centromeric to DXS7 in two of the families. Under the hypothesis of two XLRP loci, a heterogeneity (admixture) test was performed, providing significant evidence of heterogeneity in XLRP (P less than .01). No correlation was detected between the clinical manifestations of XLRP and the two different disease loci.