Donor Chromosome Segments Research Articles

Detection of QTLs Regulating Six Agronomic Traits of Rice Based on Chromosome Segment Substitution Lines of Common Wild Rice (Oryza rufipogon Griff.) and Mapping of qPH1.1 and qLMC6.1.

Wild rice is a primary source of genes that can be utilized to generate rice cultivars with advantageous traits. Chromosome segment substitution lines (CSSLs) are consisting of a set of consecutive and overlapping donor chromosome segments in a recipient's genetic background. CSSLs are an ideal genetic population for mapping quantitative traits loci (QTLs). In this study, 59 CSSLs from the common wild rice (Oryza rufipogon Griff.) accession DP15 under the indica rice cultivar (O. sativa L. ssp. indica) variety 93-11 background were constructed through multiple backcrosses and marker-assisted selection (MAS). Through high-throughput whole genome re-sequencing (WGRS) of parental lines, 12,565 mapped InDels were identified and designed for polymorphic molecular markers. The 59 CSSLs library covered 91.72% of the genome of common wild rice accession DP15. The DP15-CSSLs displayed variation in six economic traits including grain length (GL), grain width (GW), thousand-grain weight (TGW), grain length-width ratio (GLWR), plant height (PH), and leaf margin color (LMC), which were finally attributed to 22 QTLs. A homozygous CSSL line and a purple leave margin CSSL line were selected to construct two secondary genetic populations for the QTLs mapping. Thus, the PH-controlling QTL qPH1.1 was mapped to a region of 4.31-Mb on chromosome 1, and the LMC-controlling QTL qLMC6.1 was mapped to a region of 370-kb on chromosome 6. Taken together, these identified novel QTLs/genes from common wild rice can potentially promote theoretical knowledge and genetic applications to rice breeders worldwide.

Genetic architecture of plant height in maize phenotype‐selected introgression families

AbstractThis study aimed at developing, characterizing and evaluating two maize phenotypic‐selected introgression libraries for a collection of dominant plant height (PHT)‐increasing alleles by introgressing donor chromosome segments (DCS) from Germplasm Enhancement of Maize (GEM) accessions into elite inbred lines: PHB47 and PHZ51. Different backcross generations (BC1‐BC4) were developed and the tallest 23 phenotype‐selected introgression families (PIFs) from each introgression library (PHB47 or PHZ51) were selected for single nucleotide polymorphism genotyping to localize DCS underlying PHT. The result shows that most PIFs carrying DCS were significantly (α = 0.01) taller than the respective recurrent parent. In addition, they contained larger donor genome proportions than expected in the absence of selection or random mating across all BC generations. The DCS were distributed over the whole genome, indicating a complex genetic nature underlying PHT. We conclude that our PIFs are enriched for favourable PHT‐increasing alleles. These two libraries offer opportunities for future PHT gene isolation and allele characterization and for breeding purposes, such as novel cultivars for biofuel production.

Development of a Set of Chromosome Segment Substitution Lines in Pearl Millet [Pennisetum glaucum (L.) R. Br.

ABSTRACTThe detection of minor quantitative trait loci (QTL) with conventional mapping populations can be complicated by the overshadowing effect of major QTL as well as by interactions between QTL. To overcome these constraints, we developed a set of chromosome segment substitution lines (CSSLs) by introgression of overlapping chromosome segments from 863B into ICMB 841 background for use in QTL detection, fine mapping, and trait mechanism studies, especially for complex traits. Since each CSSL carries one or a few donor segments in the genetic background of the recurrent genotype, the QTL interaction is confined to genes present on small homozygous substituted segments. Advanced generation backcross progenies (1492), expected to provide coverage across the mapped length of each of the seven pearl millet linkage groups (LGs), were genotyped at 74 marker loci [(48 simple sequence repeats (SSRs), 21 single strand conformation polymorphism‐single nucleotide polymorphism (SSCP‐SNP), and 5 sequence tagged sites (STSs)] identifying 124 segment introgression homozygotes (13 for LG1, 9 for LG2, 10 for LG3, 41 for LG4, 23 for LG5, 11 for LG6, and 17 for LG7). These CSSLs consisted of 1–3 homozygous introgression segments substituted from 863B in the genetic background of the recurrent parent ICMB 841 and among them, 54 represent unique lines with the donor chromosome segment averaging 100.69 cM. These CSSLs developed here provide a nearly ideal set of genetic stocks for mapping and fine mapping the multitude of traits for which their parents differ.

Jumping-like translocation—a rare chromosomal rearrangement in a patient with Burkitt lymphoma/leukemia

Chromosomal translocations are acquired genetic rearrangements in human cancers. Jumping translocations are rare nonreciprocal rearrangements involving the same donor chromosome segment translocated to two or more recipient chromosomes. In this report, we describe a patient with Burkitt lymphoma/leukemia (BL) and a complex karyotype including a t(2;8)(p12;q24), copy-neutral loss of heterozygosity at 17p13.1-p13.3 and 19q13.1-q13.2, trisomy 20, and two uncommon chromosomal aberrations. The first uncommon aberration was a complex rearrangement of chromosome 15 (probably the consequence of chromothripsis) masked by an apparently balanced reciprocal translocation, t(11;15)(p11.2;q21). The second one was a special type of unbalanced "vice versa" jumping translocation, which involved the same acceptor chromosome arm (13q) and various donor chromosome segments. It is unclear whether both atypical rearrangements are the consequence of the TP53 alteration or whether assumed chromothripsis influenced the development of the jumping-like translocation. However, the presence of the t(11;15)(p11.2;q21) in all pathological cells suggests that it occurred in the early stage of the disease, whereas the jumping-like translocation, as an additional change, subsequently accelerated the progression of the disease.

Selection Strategies for the Development of Maize Introgression Populations

Introgression libraries are valuable resources for QTL detection and breeding, but their development is costly and time-consuming. Selection strategies for the development of introgression populations with a limited number of individuals and high-throughput (HT) marker assays are required. The objectives of our simulation study were to design and compare selection strategies for the development of maize introgression populations of 100 lines with population sizes of 360–720 individuals per generation for different DH and crossing schemes. Pre-selection for complete donor chromosomes or donor chromosome halves reduced the number of simultaneous backcross programs. The investigated crossing and selection schemes differed considerably with respect to their suitability to create introgression populations with clearly separated, evenly distributed target donor chromosome segments. DH crossing schemes were superior to crossing schemes, mainly due to complete homozygosity, which greatly reduced the total number of disjunct genome segments in the introgression populations. The crossing schemes were more flexible with respect to selection and provided economic alternatives to DH crossing schemes. For the DH crossing schemes, increasing population sizes gradually over backcross generations was advantageous as it reduced the total number of required HT assays compared to constant population sizes. For the crossing schemes, large population sizes in the final backcross generation facilitated selection for the target segments in the final backcross generation and reduced fixation of large donor chromosome segments. The suggested crossing and selection schemes can help to make the genetic diversity of exotic germplasm available for enhancing the genetic variation of narrow-based breeding populations of crops.

Genome-wide prediction methods for detecting genetic effects of donor chromosome segments in introgression populations.

BackgroundIntrogression populations are used to make the genetic variation of unadapted germplasm or wild relatives of crops available for plant breeding. They consist of introgression lines that carry small chromosome segments from an exotic donor in the genetic background of an elite line. The goal of our study was to investigate the detection of favorable donor chromosome segments in introgression lines with statistical methods developed for genome-wide prediction.ResultsComputer simulations showed that genome-wide prediction employing heteroscedastic marker variances had a greater power and a lower false positive rate compared with homoscedastic marker variances when the phenotypic difference between the donor and recipient lines was controlled by few genes. The simulations helped to interpret the analyses of glycosinolate and linolenic acid content in a rapeseed introgression population and plant height in a rye introgression population. These analyses support the superiority of genome-wide prediction approaches that use heteroscedastic marker variances.ConclusionsWe conclude that genome-wide prediction methods in combination with permutation tests can be employed for analysis of introgression populations. They are particularly useful when introgression lines carry several donor segments or when the donor segments of different introgression lines are overlapping.

Identification of a jumping translocation following pre‐implantation genetic diagnosis

Jumping translocations (JTs) were first described in a patient with Prader–Willi syndrome by Lejeune et al. [1979] and can be defined as non-reciprocal unstable chromosome rearrangements, in which the same donor chromosome segment is translocated to different recipient chromosomes. When occurring as constitutional abnormalities JTs are rare events and are usually ascertained because of clinical abnormalities. They have been associated with recognizable phenotypes such as Down syndrome, Di-George syndrome and Dandy–Walker malformation and have also been found in spontaneous abortions [Levy et al., 2000]. Constitutional JTs often involve an acrocentric chromosome with 15q12 and 22q11.2 breakpoints observed most commonly [Jewett et al., 1998]. Interstitial telomeric sequences have been found in most cases of constitutional JTs and it has been observed that in many JTs at least one of the breakpoints occurs in areas containing repetitive DNA such as telomeric, centromeric, or nucleolar organizing regions, suggesting that regions of homologous repetitive DNA sequences may play an important role in their formation [Vermeesch et al., 1997]. This report describes the unusual transmission of a JT derived from a paternal translocation involving chromosomes 4 and 22, where the donor chromosome 22 with breakpoint 22q11.2 jumped to a different autosome; chromosome 12 in the offspring. The JT was ascertained prenatally in one fetus of a twin pregnancy following pre-implantation genetic diagnosis (PGD). To our knowledge this is the first JT detected following PGD involving paternal transmission and adds to the small number of JT cases reported in the literature involving unstable familial translocations. This was the eighth IVF cycle following 7 years of infertility in a couple with polycystic ovaries in the female and azoospermia in the partner. PGD was not performed on the first four IVF cycles undertaken at another clinic, of which three cycles had resulted inmiscarriage in the first trimester. Following the fourth IVF cycle, parental karyotypeswereperformedand themale partner revealed a karyotype with 45,XY,der(4)t(4;22)(q35;q11.2),-22 involving a derivative chromosome 4 resulting from a translocation between chromosomes 4 and 22. There is loss of the reciprocal 22 translocation product, however cytogenetically there appears to be no apparent loss of euchromatic material. The female partner revealed a 46,XX karyotype.

Identification of quantitative trait loci in rye introgression lines carrying multiple donor chromosome segments

Introgression libraries can be used to make favorable genetic variation of exotic donor genotypes available in the genetic background of elite breeding material. Our objective was to employ a combination of the Dunnett test and a linear model analysis to identify favorable donor alleles in introgression lines (ILs) that carry long or multiple donor chromosome segments (DCS). We reanalyzed a dataset of two rye introgression libraries that consisted of ILs carrying on average about four donor segments. After identifying ILs that had a significantly better per se or testcross performance than the recipient line with the Dunnett test, the linear model analysis was in most instances able to clearly identify the donor regions that were responsible for the superior performance. The precise localization of the favorable DCS allowed a detailed analysis of pleiotropic effects and the study of the consistency of effects for per se and testcross performance. We conclude that in many cases the linear model analysis allows the assignment of donor effects to individual DCS even for ILs with long or multiple donor segments. This may considerably increase the efficiency of producing sub-ILs, because only such segments need to be isolated that are known to have a significant effect on the phenotype.

Jumping translocation of 15q24-qter resulting in partial trisomy: A case report

We report on a jumping translocation with five different cell lines detected in four tissues in a 2-year-old patient. This rare type of chromosomal abnormality (not more than 30 cases published so far) proved to be a series of non-reciprocal translocations of the 15q24-qter donor chromosome segment to the telomeric region of chromosomes 5q, 10q, 16q and 19p, respectively. The process, in addition to a few cells without translocation, resulted in partial trisomy of 15q24-qter which was associated with somatic overdevelopment in the patient, with hemihypertrophy and minor anomalies.The phenotype of our patient was different from that of the other two patients found in the literature having the same donor chromosome segment involved in a similar rearrangement. Possibly, the difference in the phenotype lies in the various ratios of somatic mosaicism with five cell lines, in particular the presence of normal one which is extremely rare in patients with jumping translocation. Here we discuss the various ways on how the rearrangement could arise.

Genetic architecture of plant height in winter rye introgression libraries

With 4 figures and 1 table Abstract Plant height is an important trait for breeding and as fitness criterion in natural populations of rye (Secale cereale L.). Our objectives were to investigate the inheritance of plant height in rye introgression libraries and estimate the covariation between per se and testcross performance. Two introgression libraries containing each of 40 BC2S3 candidate introgression lines (pre-ILs) were tested at five locations in two years for per se and testcross performance. Donor population was the Iranian primitive rye accession Altevogt 14160. Plant height of the donor population was 145 ± 3.6 cm as population and 152 ± 2.9 and 132 ± 2.8 cm when crossed to the two testers, respectively. Pre-ILs were much closer to the recurrent parent, but still most of them exceeded the recurrent parent in per se performance. Estimates of the genotypic variance were significant (P = 0.01) for both per se and testcross performance. Entry-mean heritabilities were high in both libraries (0.97 and 0.94, respectively). Donor chromosome segments (DCS) of 59 of 72 pre-ILs had a significant (P = 0.05) effect on plant height compared to the recurrent parent. For the testcrosses, 10 pre-ILs still contributed DCS with significantly (P = 0.05) taller effects. Genotypic correlations between pre-ILs per se and as testcrosses were moderate for the two testers. In conclusion, plant height per se has a complex inheritance with many loci spread across the entire genome. Hybrid breeding, however, facilitates the use of genetic resources because the tallness is less pronounced in the testcrosses.

Development of elite breeding lines conferring Bph18 gene-derived resistance to brown planthopper (BPH) by marker-assisted selection and genome-wide background analysis in japonica rice ( Oryza sativa L.)

Brown planthopper (BPH) is a serious threat to rice production. In this study, we have used the novel resistance gene Bph18 derived from Oryza australiensis and incorporated it into an elite japonica cultivar, Junambyeo, which is highly susceptible to BPH. The Bph18 gene was introduced by marker-assisted backcross (MAB) breeding into Junambyeo. The backcrossed progenies were evaluated for desirable agronomic and grain quality traits and the selection of improved breeding lines while simultaneously evaluating BPH resistance by bioassays in the greenhouse and foreground selection. Of the 26 advanced backcross breeding lines (ABL), four lines showed agronomic traits similar to those of the recurrent parent, with strong resistance to BPH. Molecular genotyping of the four ABL revealed the conversion of genotypes closely resembling the genotype of Junambyeo. The percentage of donor chromosome segments in ABL decreased from 12.3% in the BC 2 to 9.4%, 8.4% and 5.3% in BC 3, BC 4 and BC 5 generations, respectively. ABL retained small sizes of the donor chromosome segments on chromosomes 1, 2, 10, 11 and 12 but the genomes of ABL2, ABL3 and ABL4 were homosequential to the recurrent parent on chromosomes 3, 4, 5, 6, 7 and 9 without donor chromosome segment introgression. The ABL1 and ABL2 retained only some small segments of the donor genome on chromosomes 9 and 8, respectively. Fine structure analysis of the Bph18 flanking region between RM511 and RM1584 markers on chromosome 12 showed a progressive elimination of donor-derived chromosome segments from BC 2 to BC 5 generations. The percentage of O. australiensis derived chromosome segment substitution in the recurrent parent background decreased from 28% of the donor parent to 6.7%, 3.9%, 3.4% and 3.4% in BC 2, BC 3, BC 4 and BC 5 generations, respectively. However, it was revealed that the O. australiensis-derived chromosome segment (1320 kb) in ABL containing the Bph18 gene was consistently maintained irrespective of advances in backcross generations. BPH resistant elite breeding lines with agronomic and grain quality traits similar to those of the recurrent parent were successfully developed by foreground and background analysis in japonica background without linkage drag.

Correlation between per se and Testcross Performance in Rye (Secale cereale L.) Introgression Lines Estimated with a Bivariate Mixed Linear Model

ABSTRACTIn hybrid breeding a high correlation between per se performance of parental lines and hybrid performance can help to reduce the efforts for testcross trials. Our objectives were (i) to investigate the correlation between per se and testcross performance of rye (Secale cereale L.) candidate introgression lines (pre‐ILs) for thousand‐kernel weight, test weight, falling number, starch, pentosan, and protein content; and (ii) to investigate the consistency of quantitative trait loci (QTL) determined in pre‐ILs and their testcross progenies. Eighty pre‐ILs carrying donor chromosome segments (DCS) from the Iranian primitive rye Altevogt 14160 in the genetic background of elite line L2053‐N, were evaluated at four locations over 2 yr. Genetic correlations between per se and testcross performance were estimated with a bivariate mixed linear model. Putative QTL regions were detected by comparing the performance of pre‐ILs carrying certain DCS with the performance of the recurrent parent. Genotypic variances and heritabilities were higher for per se than for testcross performance. Genetic correlations between per se and testcross performance were mostly intermediate. Common QTL regions were observed for test weight, starch, pentosan, and protein content. Our results revealed that a superior per se performance of rye pre‐ILs is not indicative for a superior hybrid performance. Consequently, using rye pre‐ILs in hybrid breeding programs requires testcross trials.

Power and false-positive rate in QTL detection with near-isogenic line libraries

Libraries of near-isogenic lines (NILs) were used for quantitative trait locus (QTL) detection in model species and economically important crops. The experimental design and genetic architecture of the considered traits determine the statistical properties of QTL detection. The objectives of our simulation study were to (i) investigate the population sizes required to develop NIL libraries in barley and maize, (ii) compare NIL libraries with nonoverlapping and overlapping donor segments and (iii) study the number of QTLs and the size of their effects with respect to the power and the false-positive rate of QTL detection. In barley, the development of NIL libraries with target segment lengths of 10 c and marker distances of 5 cM was possible using a BC(3)S(2) backcrossing scheme and population sizes of 140. In maize, population sizes larger than 200 were required. Selection for the recipient parent genome at markers flanking the target segments with distances between 5 and 10 cM was required for an efficient control of the false-positive rate. NIL libraries with nonoverlapping donor chromosome segments had a greater power of QTL detection and a smaller false-positive rate than libraries with overlapping segments. Major genes explaining 30% of the genotypic difference between the donor and recipient were successfully detected even with low heritabilities of 0.5, whereas for minor genes explaining 5 !or 10%, high heritabilities of 0.8 or 0.9 were required. The presented results can assist geneticists and breeders in the efficient development of NIL libraries for QTL detection.

Combined detection and introgression of QTL in outbred populations

BackgroundDetecting a QTL is only the first step in genetic improvement programs. When a QTL with desirable characteristics is found, e.g. in a wild or unimproved population, it may be interesting to introgress the detected QTL into the commercial population. One approach to shorten the time needed for introgression is to combine both QTL identification and introgression, into a single step. This combines the strengths of fine mapping and backcrossing and paves the way for introgression of desirable but unknown QTL into recipient animal and plant lines.MethodsThe method consisting in combining QTL mapping and gene introgression has been extended from inbred to outbred populations in which QTL allele frequencies vary both in recipient and donor lines in different scenarios and for which polygenic effects are included in order to model background genes. The effectiveness of the combined QTL detection and introgression procedure was evaluated by simulation through four backcross generations.ResultsThe allele substitution effect is underestimated when the favourable QTL allele is not fixed in the donor line. This underestimation is proportional to the frequency differences of the favourable QTL allele between the lines. In most scenarios, the estimates of the QTL location are unbiased and accurate. The retained donor chromosome segment and linkage drag are similar to expected values from other published studies.ConclusionsIn general, our results show that it is possible to combine QTL detection and introgression even in outbred species. Separating QTL mapping and introgression processes is often thought to be longer and more costly. However, using a combined process saves at least one generation. With respect to the linkage drag and obligatory drag, the results of the combined detection and introgression scheme are very similar to those of traditional introgression schemes.

Identification of genomic regions carrying QTL for agronomic and quality traits in rye (Secale cereale) introgression libraries

AbstractIntrogression libraries can be used to localize genomic regions carrying quantitative trait loci (QTL). We used this approach to detect QTL regions affecting the per se performance of agronomic and quality traits with two rye (Secale cereale L.) introgression libraries. Our objectives were to detect candidate introgression lines (pre‐ILs) that have a different per se performance than the recurrent parent and to identify the underlying QTL regions. The introgression libraries containing 40 BC2S3 lines each were established with marker‐assisted backcrossing from crosses of the heterozygous Iranian primitive rye accession Altevogt 14160 and the elite inbred line L2053‐N. To assess the phenotypic effect of the donor chromosome segments (DCS) the pre‐ILs were evaluated for grain yield, plant height, thousand‐kernel weight, test weight, falling number and protein content in replicated field trials at five locations in Germany over 2 years. In total, 58 significant (P < 0.05) differences between pre‐ILs and L2053‐N were observed in each introgression library. The DCS in pre‐ILs differing from the recurrent parent possess most likely the responsible QTL. Genomic regions carrying favourable QTL alleles were detected for test weight, thousand‐kernel weight and protein content. We conclude that Altevogt 14160 can not only be used to enrich the genetic variation of the restricted hybrid rye gene pools but will also allow the breeder to efficiently detect favourable QTL for marker‐assisted selection.

Rye introgression lines as source of alleles for pollen‐fertility restoration in Pampa CMS

AbstractRestoration of pollen‐fertility is required to guarantee successful seed production of hybrid varieties based on cytoplasmatic male‐sterility (CMS) induced by Pampa cytoplasm. As most European restorer lines have still numerous disadvantages, using genetic resources via introgression libraries might be promising to identify and localize new and more effective restorer genes. The objectives of this study were to (1) evaluate in field trials the performance of 39 candidate introgression lines (pre‐ILs) for pollen‐fertility restoration and (2) to identify donor chromosome segments (DCS) underlying pollen‐fertility restoration. Exotic alleles from the Iranian primitive rye accession Altevogt 14160 were introduced into the elite non‐restorer inbred line L2053‐N by marker‐assisted backcrossing. BC2S3 pre‐ILs were genotyped using amplified fragment length polymorphisms and simple sequence repeats. Pollen‐fertility restoration was evaluated in replicated field trials across two testers at two locations in 2006 for analysing the phenotypic effects of the exotic DCS. Out of 39 pre‐ILs, we determined three showing full pollen‐fertility across both testers and locations carrying a DCS on chromosome 4R. Moreover, one pre‐IL with partial pollen‐fertility was detected showing a DCS on chromosome 1R. We conclude that our introgression library can serve as a valuable resource for mining favourable genes from exotic primitive rye, which can greatly promote hybrid rye breeding.

Selection strategies for the development of rye introgression libraries

Computer simulations can be employed to find optimal procedures for developing introgression libraries in rye with marker-assisted backcrossing. Our objectives were to investigate the effects of the employed (1) breeding scheme, (2) selection strategy, and (3) population sizes on the donor genome coverage of the library, the number of introgression lines carrying additional donor chromosome segments outside the target regions, and the number of required marker data points. With respect to these target criteria, a BC(3)S(2) breeding scheme and increasing population sizes from early to advanced generations were superior to a BC(2)S(3) breeding scheme and constant population sizes. The smallest number of donor segments outside the target regions was reached with a three-stage selection strategy, which consists on selection for the target segment, selection for recombination at flanking markers and selection for recurrent parent alleles across the entire genome. Omitting the selection for flanking markers in generation BC(1) reduced considerably the number of required marker data points. A pre-selection of chromosomes consisting completely of donor genome in BC(1) was advantageous, if the effort in the breeding nursery should kept minimum. Adopting the described designs can help rye breeders to successfully develop introgression libraries.

Testcross performance of rye introgression lines developed by marker-assisted backcrossing using an Iranian accession as donor

Introgression libraries facilitate the identification of favorable exotic alleles or genomic regions, which can be exploited for improving elite breeding material. We evaluated the first two introgression libraries in rye (Secale cereale L.) on the phenotypic and molecular level. Our objectives were to detect candidate introgression lines (pre-ILs) with a better testcross performance than the recurrent parent and identify donor chromosome segments (DCS) responsible for the improved performance. We introduced DCS from the self-incompatible heterozygous exotic Iranian primitive rye accession Altevogt 14160 (donor) into the genetic background of the elite inbred line L2053-N (recurrent parent) by marker-assisted backcrossing and developed 40 BC(2)S(3) lines in each introgression library. Testcross performance for three agronomic and six quality traits was evaluated in replicated field trials across two testers at five locations over 2 years. The phenotypic effect of the DCS was analyzed for all traits. The pre-ILs had on average a testcross performance comparable to that of the recurrent parent. Significant (P < 0.05) differences between individual pre-ILs and the recurrent parent were detected for all traits except for heading date. For more than 60% of the significant (P < 0.05) differences, the pre-ILs were superior to the recurrent parent. For some pre-ILs, specific DCS were identified containing presumably quantitative trait loci responsible for the superior hybrid performance. Consequently, our study revealed that the development and employment of introgression libraries offers the opportunity for a targeted increase of genetic diversity of elite rye material for hybrid performance of agronomically important traits.

Jumping translocations in hematological malignancies: a cytogenetic study of five cases

Jumping translocations (JT) are rare cytogenetic aberrations in hematological malignancies that include unbalanced translocations involving a donor chromosome arm or chromosome segment that has fused to two or more different recipient chromosomes in different cell lines. We report five cases associated with different hematologic disorders and JT to contribute to the investigation of the origin, pathogenesis, and clinical significance of JT. These cases involve JT of 1q in a case of acute myeloblastic leukemia (AML)-M1, a case of Burkitt lymphoma, and a case of BCR/ABL-positive acute lymphoblastic leukemia, as well as a JT of 13q in a case of AML-M5, and a JT of 11q segment in a case of undifferentiated leukemia. To our knowledge, with regard to hematologic malignancies, this study presents the first case of JT associated with AML-M1, the first case of JT involving 13q as a donor chromosome, and the first report of JT involving a segment of 11q containing two copies of the MLL gene, jumping on to two recipient chromosomes in each cell line and resulting in six copies of the MLL gene. Our investigation suggests that JT may not contribute to the pathogenesis but rather to the progression of the disease, and it demonstrates that chromosome band 1q10 as a breakpoint of the donor chromosome 1q is also implicated in AML, not only in multiple myeloma as it has been known until now.

Establishment of introgression libraries in hybrid rye (Secale cereale L.) from an Iranian primitive accession as a new tool for rye breeding and genomics

Genetic diversity of elite breeding material can be increased by introgression of exotic germplasm to ensure long-term selection response. The objective of our study was to develop and characterize the first two rye introgression libraries generated by marker-assisted backcrossing and demonstrate their potential application for improving the baking quality of rye. Starting from a cross between inbred line L2053-N (recurrent parent) and a heterozygous Iranian primitive population Altevogt 14160 (donor) two backcross (BC) and three selfing generations were performed to establish introgression libraries A and B. Amplified fragment length polymorphisms (AFLP markers) and simple sequences repeats (SSRs) were employed to select and characterize candidate introgression lines (pre-ILs) from BC(1) to BC2S3. The two introgression libraries comprise each 40 BC2S3 pre-ILs. For analyzing the phenotypic effects of the exotic donor chromosome segment (DCS) we evaluated the per se performance for pentosan and starch content in replicated field trials at each of four locations in 2005 and 2006. Introgression library A and B cover 74 and 59% of the total donor genome, respectively. The pre-ILs contained mostly two to four homozygous DCS, with a mean length of 12.9 cM (A) and 10.0 cM (B). We detected eight (A) and nine (B) pre-ILs with a significant (P<0.05) higher pentosan content and two pre-ILs (B) with a significant (P<0.05) higher starch content than the elite recurrent parent. Thus, our results indicate that exotic genetic resources in rye carry favorable alleles for baking quality traits, which can be exploited for improving the elite breeding material by marker-assisted selection (MAS). These introgression libraries can substantially foster rye breeding programs and provide a promising opportunity to proceed towards functional genomics.