Regional Mapping of Human Genes for Phosphoglucomutase-1 on Chromosome 1 and β-Glucuronidase on Chromosome 7 Using Mouse × Human Hybrids

1978 ◽  
Vol 28 (3) ◽  
pp. 161-170 ◽  
Author(s):  
Donna L. George ◽  
Uta Francke
Keyword(s):  
Chromosome 7 ◽  
Chromosome 1 ◽  
Regional Mapping ◽  
Human Genes

Characterization of the rearranged tpr-met oncogene breakpoint

1987 ◽  
Vol 7 (2) ◽  
pp. 921-924
Author(s):  
M Dean ◽  
M Park ◽  
G F Vande Woude
Keyword(s):  
Nucleotide Sequence ◽  
Repetitive Sequence ◽  
Recombination Event ◽  
Chromosome 7 ◽  
Chromosome 1 ◽  
Genomic Locus ◽  
Met Oncogene

We determined the nucleotide sequence of the rearranged trp-met genomic locus and the corresponding portions of the unrearranged tpr and met genomic fragments. The breakpoints occur at one end of a stretch of 21 A residues that follow an Alu repetitive sequence in the tpr locus and within a group of 3 A residues in the met proto-oncogene locus. We conclude that the fusion between the tpr locus on chromosome 1 and the met locus on chromosome 7 resulted from a recombination event.

Whole Arm Duplication of 1q in Myeloid Neoplasm, with Emphasis On Derivative (1;7)(q10;p10).

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 4238-4238
Author(s):  
Patricia T. Greipp ◽  
Curtis A Hanson ◽  
Ruchi G. Sharma ◽  
Lai P. Nguyen ◽  
Ryan A Knudson ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Acute Myeloid Leukemia ◽  
Median Survival ◽  
Mayo Clinic ◽  
Myeloid Leukemia ◽  
Cytogenetic Study ◽  
Chromosome 7 ◽  
Chromosome 1 ◽  
Hematologic Neoplasm ◽  
Acute Myeloid

Abstract Abstract 4238 Background Duplication of the long arm of chromosome 1 (1q) is a recurrent finding in hematologic neoplasms. It is most commonly observed as an unbalanced whole arm translocation with chromosome 7, resulting in concurrent deletion of 7q (ISCN as der(1;7)(q10q10)). It is less frequently observed as an unbalanced translocation with a chromosome other than chromosome 7 or as a duplication of only a segment of 1q. The der(1;7) has been described in myelodysplastic syndrome (MDS), and acute myeloid leukemia (AML), and is reportedly less commonly associated with myeloproliferative neoplasms (MPN). The effect of this rearrangement on prognosis is unclear, although it is classified by the International Scoring System (IPSS) as a karyotypic variant of del(7q)/-7 and is thus assigned poor risk. We have initiated a thorough review of all cases of duplication of the long arm of chromosome 1 seen at our institution. Methods After approval from the Institutional Review Board, all cases seen at Mayo Clinic over a 20 year period (1989-2009) were searched for a duplication of the long arm of chromosome 1. The sole exclusion criterion was a complex karyotype (3 or more independent chromosome abnormalities in the clone). Cytogenetic and hematopathology review was done and relevant clinical data were abstracted from the Mayo Clinic record. Survival of MDS patients and MPN patients was determined from time of cytogenetic diagnosis of der(1;7) until death or last contact with the patient, using the Kaplan-Meier method. Results Among 23,375 unique patients at Mayo Clinic with a cytogenetic study for hematologic neoplasm, 229 (0.98%) patients carried a duplication of 1q. Within this group, 99 (0.42%) had duplication of part of 1q, 123 (0.53%) carried a whole arm duplication of 1q, and 7 patients carried an isochromosome 1q (resulting in 4 copies of 1q). The most common karyotype among those with a whole arm duplication of 1q was der(1;7) (n=84), followed by similar whole arm translocations involving chromosomes 9 and 19 (n=7 each) or chromosomes 12, 13, 14, 15, 16, 17, 18, 20, 21, or 22 (n=1 to 6 each). We focused on 65 der(1;7) patients who had adequate hematopathological material that could be reviewed and sub-classified according to WHO criteria. MDS was identified in 30 patients and MPN in 20. MDS (therapy related, RARS, RAEB-1 or 2) was seen in 9 patients (14%), MDS/ refractory cytopenia with multilineage dysplasia (RCMD) in 19 (29%). MDS/Myeloproliferative neoplasm (MPN) in 2 (3%), MPN not otherwise classified in 5 (8%), and MPN / primary myelofibrosis (including 1 post-polycythemic and one post-thromobocythemic) (PMF) in 15 (23%). The bone marrow was apparently normal in 5 patients (8%), CLL was noted in 3 (5%), and 1 each exhibited features of systemic mast cell disease or myeloma. Acute myeloid leukemia (AML) was identified 5 patients (8%). The M:F ratio of the der(1;7) patients was 2.8:1. The median age at occurrence of the der(1;7) was 63 years (range: 13-87 years). All 5 AML patients have died (median survival 9 months). Of the MDS and MPN patients, the median survival was 2.2 and 2.8 years, respectively, from the time of cytogenetic diagnosis. Overall survival was not significantly different between the MDS and MPN group, and they exhibited 30% survival after 5 years (see Figure). Conclusions Duplication of 1q was observed in nearly 1% of the Mayo Clinic patients who had a bone marrow cytogenetic study for a hematologic neoplasm. Among those with a der(1;7), AML was uncommon but MDS and MPN were similar in frequency. Median survival of 2.2 to 2.8 years for the MDS and MPN group justifies assignment to a more favorable group than the current IPSS assignment. Disclosures: No relevant conflicts of interest to declare.

scholarly journals Genetic Analysis of the Hypothalamic Corticotropin-Releasing Factor System

Endocrinology ◽  
2005 ◽  
Vol 146 (5) ◽  
pp. 2362-2368 ◽  
Author(s):  
Steven J. Garlow ◽  
Ericka Boone ◽  
Wei Li ◽  
Michael J. Owens ◽  
Charles B. Nemeroff
Keyword(s):  
Binding Protein ◽  
Transcript Abundance ◽  
Interval Mapping ◽  
Chromosome 8 ◽  
Chromosome 7 ◽  
Chromosome 1 ◽  
Chromosome 12 ◽  
Potential Candidate ◽  
Chromosome 13 ◽  
Crf System

Abstract The goal of this study was to use BxD recombinant inbred mice to search for genes that control the hypothalamic corticotrophin-releasing factor (CRF) system. The specific phenotype that was measured was abundance of transcripts that encode CRF, CRF receptor (Crf-R1), CRF binding protein, and arginine vasopressin (AVP) in total hypothalamic RNA. The strain distribution patterns for the transcript abundances for each target were continuously distributed, consistent with these being quantitative traits. Marker regression and interval mapping revealed associations with quantitative trait loci (QTL) for CRF transcript abundance on chromosome 1 (at 89.2 cM), chromosome 12 (between 54–58 cM), and chromosome 13 (between 26–30 cM); for Crf-R1 transcript abundance on chromosome 7 (at 1.5 cM), chromosome 12 (at 37 cM), and chromosome X (at 30 cM); for CRF binding protein transcript abundance on chromosome 7 (at 48.5 cM), chromosome 8 (at 65 cM), and chromosome 12 (at 19 cM); and for AVP transcript abundance on chromosome 7 (at 1 cM), chromosome 12 (at 13 cM), and chromosome 13 (at 45 cM). The transcript abundance QTL were not linked to their respective structural genes. Interval mapping on chromosome 7 reveals substantial overlap between QTL that control AVP and Crf-R1 transcript abundance and on chromosome 12 for QTL that control CRF and Crf-R1, which may indicate loci that coordinate regulation of the CRF system. There are QTL for all four targets on chromosome 12. There are a number of neurodevelopmental genes in very close proximity to the transcript abundance QTL that are potential candidate genes.

Karyological studies of Isthmiophora melis (Schrank, 1788) from its type locality

1991 ◽  
Vol 65 (4) ◽  
pp. 255-258 ◽  
Author(s):  
T. Mutafova ◽  
I. Kanev ◽  
U. Eizenhut
Keyword(s):  
Chromosome Number ◽  
Diploid Cell ◽  
Chromosome 7 ◽  
Giemsa Staining ◽  
Type Locality ◽  
Chromosome 1 ◽  
Genome Length ◽  
Centromere Region ◽  
Fundamental Number ◽  
Centromere Position

ABSTRACTThe karyotype of Isthmiophora melis (Trematoda:Echinostomatidae) is described. The chromosome number in the diploid cell is 2n = 20. The absolute (La) and relative (Lr) lengths of the chromosomes, as well as the centromere position (Ic), are determined. The differences in length between the adjacent chromosomes in the ordered series are not great, with the exception of chromosome 1 which occupies 20.58% of the genome length. This chromosome is metacentric, with lightly stained and elongated centromere region with Giemsa staining. Chromosome 7 is submetacentric. Chromosomes 2 to 6 are defined as telo-subtelocentric, while chromosomes 8 to 10 are subtelo-submetacentric. The fundamental number of arms in the I. melis karyotype is NF-22.

scholarly journals Allelic Switching of DLX5, GRB10, and SVOPL during Colorectal Cancer Tumorigenesis

2019 ◽  
Vol 2019 ◽  
pp. 1-10
Author(s):  
Arnoud Boot ◽  
Jan Oosting ◽  
Saskia Doorn ◽  
Sarah Ouahoud ◽  
Marina Ventayol Garcia ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cell Lines ◽  
Normal Mucosa ◽  
Chromosome 7 ◽  
Specific Expression ◽  
Allele Specific Expression ◽  
Human Genes ◽  
Allele Specific ◽  
Somatic Alterations ◽  
Low Passage

Allele-specific expression (ASE) is found in approximately 20-30% of human genes. During tumorigenesis, ASE changes due to somatic alterations that change the regulatory landscape. In colorectal cancer (CRC), many chromosomes show frequent gains or losses while homozygosity of chromosome 7 is rare. We hypothesized that genes essential to survival show allele-specific expression (ASE) on both alleles of chromosome 7. Using a panel of 21 recently established low-passage CRC cell lines, we performed ASE analysis by hybridizing DNA and cDNA to Infinium HumanExome-12 v1 BeadChips containing cSNPs in 392 chromosome 7 genes. The results of this initial analysis were extended and validated in a set of 89 paired normal mucosa and CRC samples. We found that 14% of genes showed ASE in one or more cell lines and identified allelic switching of the potential cell survival genes DLX5, GRB10, and SVOPL on chromosome 7, whereby the most abundantly expressed allele in the normal tissue is the lowest expressed allele in the tumor and vice versa. We established that this allelic switch does not result from loss of imprinting. The allelic switching of SVOPL may be a result of transcriptional downregulation, while the exact mechanisms resulting in the allelic switching of DLX5 and GRB10 remain to be elucidated. In conclusion, our results show that profound changes take place in allelic transcriptional regulation during the tumorigenesis of CRC.

scholarly journals Murine chromosomal regions correlated with longevity.

Genetics ◽  
1988 ◽  
Vol 118 (4) ◽  
pp. 693-704
Author(s):  
R Gelman ◽  
A Watson ◽  
R Bronson ◽  
E Yunis
Keyword(s):  
Proportional Hazards ◽  
Proportional Hazards Model ◽  
The Other ◽  
Chromosome 7 ◽  
Chromosome 1 ◽  
Chromosome 2 ◽  
Hazards Model ◽  
Single Room ◽  
Single Region ◽  
Different Strains

Abstract In this longevity analysis of 360 BXD recombinant inbred female mice (20 different strains), 2 strains had very significantly shorter survival and 1 strain had very significantly longer survival than the other 17 strains; 4 other strains had less significant lengthening of survival compared to the other 13 strains in a proportional hazards model of survival. Mean survival on the shortest lived strain was 479 days; on the longest lived strain the mean survival was almost double (904 days). Ranges of survival within strain were very large (averaging 642 days), and strain accounted for only 29% of the variation in survival, showing that there are important environmental and/or special developmental effects on longevity even in this colony housed in a single room. Each strain had been typed for markers of 141 regions on 15 chromosomes; 101 of these markers had distinguishable distributions on the 20 strains. The two shortest lived strains had the same alleles for 63% of the markers. The single region most significantly correlated with survival (marked by P450, Coh, Xmmv-35 on chromosome 7) divided the mice into two groups with survival medians which differed by 153 days (755 days for mice with a B genotype; 602 days for mice with a D genotype). Evaluated individually, 44% of the genetic markers (including some markers on 11 of 15 chromosomes with any markers typed) were found to be significantly correlated with survival (P less than 0.05) although one would only expect 5% of the markers to be significant by chance. While studies of many markers should adjust for the multiple comparisons problem, one interpretation of these crude P values is that any experiment with only one of these "significant" markers typed would be likely to conclude that the marker was a significant predictor of survival. Two types of multiple regression models were used to examine the correlation with survival of groups of genes. When a proportional hazards model for survival was done in terms of genotype regions, a six genetic region model best correlated with survival: that marked by P450, Coh, Xmmv-35 on chromosome 7 (B allele lives longer), Ly-24 on chromosome 2 (B allele lives longer), beta 2M and H-3 on chromosome 2 (D allele lives longer) Lamb-2 on chromosome 1 (D allele lives longer), Ltw-4 on chromosome 1 (B allele lives longer), and the Igh area of chromosome 12 (Igh-Sa4, Igh-Sa2, Igh-Bgl, Igh-Nbp, Igh-Npid, Igh-Gte, Odc-8, and Ox-1; D allele lives longer).(ABSTRACT TRUNCATED AT 400 WORDS)

scholarly journals Identification of 2 major loci linked to autoimmune hemolytic anemia in NZB mice

Blood ◽  
2005 ◽  
Vol 106 (4) ◽  
pp. 1323-1329 ◽  
Author(s):  
Shuichi Kikuchi ◽  
Hirofumi Amano ◽  
Eri Amano ◽  
Liliane Fossati-Jimack ◽  
Marie-Laure Santiago-Raber ◽  
...  
Keyword(s):  
Hemolytic Anemia ◽  
Autoimmune Hemolytic Anemia ◽  
Chromosome 7 ◽  
Chromosome 17 ◽  
Chromosome 1 ◽  
Susceptibility Loci ◽  
Promoting Effect ◽  
Autoantibody Production ◽  
Congenic Mice ◽  
B1 Cells

AbstractUsing a cohort of C57BL/6 (B6) × (NZB × B6)F1 backcross male mice bearing the Yaa (Y-linked autoimmune acceleration) mutation, we mapped and characterized the NZB-derived susceptibility loci predisposing to the development of autoimmune hemolytic anemia (AHA). Our analysis identified 2 major loci on NZB chromosome 7 and chromosome 1 linked with Coombs antierythrocyte autoantibody production, and their contributions were confirmed by the analysis of B6.Yaa mice (B6 mice bearing the Yaa mutation) congenic for each NZB-derived susceptibility interval. A newly identified Aia3 (autoimmune anemia 3) locus present on NZB chromosome 7 selectively regulated Coombs antibody responses, while the second locus, directly overlapping with Nba2 (NZB autoimmunity 2) on chromosome 1, promoted the development of AHA, likely as part of its effect on overall production of lupus autoantibodies. A higher incidence of Coombs antibody production in B6.Aia3 congenic mice (B6 mice bearing the NZB-Aia3 locus) than B6.Nba2 mice (B6 mice bearing the NZB-Nba2 locus) indicated a major role for Aia3 in AHA. Notably, lack of expansion of B1 cells in B6.Aia3 congenic mice argued against the involvement of this subset in AHA. Finally, our analysis of BC mice also demonstrated the presence of a B6-derived H2-linked locus on chromosome 17 that apparently regulated the production of Coombs antibodies as a result of its overall autoimmune promoting effect.

The Na+/H+ antiporter: a ?melt? polymorphism allows regional mapping to the short arm of chromosome 1

1990 ◽  
Vol 86 (1) ◽  
Author(s):  
ChristopherR.K. Dudley ◽  
LuisA. Giuffra ◽  
Patricia Tippett ◽  
KennethK. Kidd ◽  
StephenT. Reeders
Keyword(s):  
Chromosome 1 ◽  
Regional Mapping
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