A human SHC-related sequence maps to chromosome 17, the SHC gene maps to chromosome 1

1995 ◽  
Vol 96 (2) ◽  
pp. 245-248 ◽  
Author(s):  
IsikG. Yulug ◽  
SeanE. Egan ◽  
CheeGee See ◽  
ElizabethM.C. Fisher
Keyword(s):  
Chromosome 17 ◽  
Chromosome 1 ◽  
Related Sequence ◽  
Gene Maps

scholarly journals Genome-wide analysis of over 106 000 individuals identifies 9 neuroticism-associated loci

2016 ◽  
Vol 21 (6) ◽  
pp. 749-757 ◽  
Author(s):  
D J Smith ◽  
V Escott-Price ◽  
G Davies ◽  
M E S Bailey ◽  
L Colodro-Conde ◽  
...  
Keyword(s):  
Medical Research ◽  
Genetic Correlation ◽  
Meta Analysis ◽  
Small Sample ◽  
Chromosome 8 ◽  
Chromosome 17 ◽  
Chromosome 1 ◽  
Eysenck Personality Questionnaire ◽  
Uk Biobank ◽  
Genome Wide

Abstract Neuroticism is a personality trait of fundamental importance for psychological well-being and public health. It is strongly associated with major depressive disorder (MDD) and several other psychiatric conditions. Although neuroticism is heritable, attempts to identify the alleles involved in previous studies have been limited by relatively small sample sizes. Here we report a combined meta-analysis of genome-wide association study (GWAS) of neuroticism that includes 91 370 participants from the UK Biobank cohort, 6659 participants from the Generation Scotland: Scottish Family Health Study (GS:SFHS) and 8687 participants from a QIMR (Queensland Institute of Medical Research) Berghofer Medical Research Institute (QIMR) cohort. All participants were assessed using the same neuroticism instrument, the Eysenck Personality Questionnaire-Revised (EPQ-R-S) Short Form’s Neuroticism scale. We found a single-nucleotide polymorphism-based heritability estimate for neuroticism of ∼15% (s.e.=0.7%). Meta-analysis identified nine novel loci associated with neuroticism. The strongest evidence for association was at a locus on chromosome 8 (P=1.5 × 10−15) spanning 4 Mb and containing at least 36 genes. Other associated loci included interesting candidate genes on chromosome 1 (GRIK3 (glutamate receptor ionotropic kainate 3)), chromosome 4 (KLHL2 (Kelch-like protein 2)), chromosome 17 (CRHR1 (corticotropin-releasing hormone receptor 1) and MAPT (microtubule-associated protein Tau)) and on chromosome 18 (CELF4 (CUGBP elav-like family member 4)). We found no evidence for genetic differences in the common allelic architecture of neuroticism by sex. By comparing our findings with those of the Psychiatric Genetics Consortia, we identified a strong genetic correlation between neuroticism and MDD and a less strong but significant genetic correlation with schizophrenia, although not with bipolar disorder. Polygenic risk scores derived from the primary UK Biobank sample captured ∼1% of the variance in neuroticism in the GS:SFHS and QIMR samples, although most of the genome-wide significant alleles identified within a UK Biobank-only GWAS of neuroticism were not independently replicated within these cohorts. The identification of nine novel neuroticism-associated loci will drive forward future work on the neurobiology of neuroticism and related phenotypes.

Mouse Thioredoxin Gene Maps on Chromosome 4, whereas Its Pseudogene Maps on Chromosome 1

Genomics ◽  
1994 ◽  
Vol 21 (1) ◽  
pp. 251-253 ◽  
Author(s):  
Makoto Taketo ◽  
Minoru Matsui ◽  
Julie M. Rochelle ◽  
Junji Yodoi ◽  
Michael F. Seldin
Keyword(s):  
Chromosome 1 ◽  
Chromosome 4 ◽  
Gene Maps

Integration of gene maps: updating chromosome 1

1995 ◽  
Vol 59 (3) ◽  
pp. 291-305 ◽  
Author(s):  
P. FORABOSCO ◽  
A. COLLINS ◽  
N. E. MORTON
Keyword(s):  
Chromosome 1 ◽  
Gene Maps

scholarly journals Genetic Modifiers of Oral Nicotine Consumption in Chrna5 Null Mutant Mice

2021 ◽  
Vol 12 ◽  
Author(s):  
Erin Meyers ◽  
Zachary Werner ◽  
David Wichman ◽  
Hunter L. Mathews ◽  
Richard A. Radcliffe ◽  
...  
Keyword(s):  
Chromosome 17 ◽  
Chromosome 1 ◽  
Chromosome 15 ◽  
Genetic Modifiers ◽  
Loss Of Function ◽  
Wild Type ◽  
Nicotine Intake ◽  
Nicotine Consumption ◽  
Null Mutant Mice ◽  
Oral Nicotine

The gene CHRNA5 is strongly associated with the level of nicotine consumption in humans and manipulation of the expression or function of Chrna5 similarly alters nicotine consumption in rodents. In both humans and rodents, reduced or complete loss of function of Chrna5 leads to increased nicotine consumption. However, the mechanism through which decreased function of Chrna5 increases nicotine intake is not well-understood. Toward a better understanding of how loss of function of Chrna5 increases nicotine consumption, we have initiated efforts to identify genetic modifiers of Chrna5 deletion-dependent oral nicotine consumption in mice. For this, we introgressed the Chrna5 knockout (KO) mutation onto a panel of C57BL/6J-Chr#A/J/NAJ chromosome substitution strains (CSS) and measured oral nicotine consumption in 18 CSS and C57BL/6 (B6) mice homozygous for the Chrna5 KO allele as well as their Chrna5 wild type littermates. As expected, nicotine consumption was significantly increased in Chrna5 KO mice relative to Chrna5 wildtype mice on a B6 background. Among the CSS homozygous for the Chrna5 KO allele, several exhibited altered nicotine consumption relative to B6 Chrna5 KO mice. Sex-independent modifiers were detected in CSS possessing A/J chromosomes 5 and 11 and a male-specific modifier was found on chromosome 15. In all cases nicotine consumption was reduced in the CSS Chrna5 KO mice relative to B6 Chrna5 KO mice and consumption in the CSS KO mice was indistinguishable from their wild type littermates. Nicotine consumption was also reduced in both Chrna5 KO and wildtype CSS mice possessing A/J chromosome 1 and increased in both KO and wild type chromosome 17 CSS relative to KO and wild type B6 mice. These results demonstrate the presence of several genetic modifiers of nicotine consumption in Chrna5 KO mice as well as identify loci that may affect nicotine consumption independent of Chrna5 genotype. Identification of the genes that underlie the altered nicotine consumption may provide novel insight into the mechanism through which Chrna5 deletion increases nicotine consumption and, more generally, a better appreciation of the neurobiology of nicotine intake.

scholarly journals Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33;p15) in three adverse pregnancies

2020 ◽  
Author(s):  
Jingbo Zhang ◽  
Bei Zhang ◽  
Tong Liu ◽  
Huihui Xie ◽  
Jingfang Zhai
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosomal Abnormalities ◽  
Genetic Diagnosis ◽  
Partial Trisomy ◽  
Distal Region ◽  
Chromosome 17 ◽  
Chromosome 1 ◽  
Chromosome 4 ◽  
Chromosome 5 ◽  
Balanced Translocation

Abstract Background: Carriers of balanced reciprocal chromosomal translocations are at known reproductive risk for offspring with unbalanced genotypes and resultantly abnormal phenotypes. Once fertilization of a balanced translocation gamete with a normal gamete, the partial monomer or partial trisomy embryo will undergo abortion, fetal arrest or fetal malformations. We reported a woman with chromosomal balanced translocation who had two adverse pregnancies. Prenatal diagnosis was made for her third pregnancy to provide genetic counseling and guide her fertility. Case presentation: We presented a woman with chromosomal balanced translocation who had three adverse pregnancies. Routine G banding and CNV-seq were used to analyze the chromosome karyotypes and copy number variants of amniotic fluid cells and peripheral blood. The karyotype of the woman was 46,XX,t(4;5)(q33;p15). During her first pregnancy, odinopoeia was performed due to fetal edema and abdominal fluid. The umbilical cord tissue of the fetus was examined by CNV-seq. The results showed a genomic gain of 24.18 Mb at 4q32.3-q35.2 and a genomic deletion of 10.84 Mb at 5p15.33-p15.2 and 2.36 Mb at 15q11.1-q11.2. During her second pregnancy, she did not receive a prenatal diagnosis because a routine prenatal ultrasound examination found no abnormalities. In 2016, she gave birth to a boy.. The karyotype the of the boy was 46,XY,der(5)t(4;5)(q33;p15)mat. The results of CNV-seq showed a deletion of short arm of chromosome 5 capturing regions 5p15.33p15.2, a copy gain of the distal region of chromosome 4 at segment 4q32.3q35.2, a duplication of chromosome 1 at segment 1q41q42.11 and a duplication of chromosome 17 at segment 17p12. During her third pregnancy, she underwent amniocentesis at 17 weeks of gestation. Chromosome karyotype hinted 46,XY,der(5)t(4;5)(q33;p15)mat. Results of CNV-seq showed a deletion of short arm (p) of chromosome 5 at the segment 5p15.33p15.2 and a duplication of the distal region of chromosome 4 at segment 4q32.3q35.2.Conclusions: Chromosomal abnormalities in three pregnancies were inherited from the mother. Preimplantation genetic diagnosis is recommended to prevent the birth of children with chromosomal abnormalities.

scholarly journals RNA Sequencing of Primary Cutaneous and Breast-Implant Associated Anaplastic Large Cell Lymphomas Reveals Infrequent Fusion Transcripts and Upregulation of PI3K/AKT Signaling via Neurotrophin Pathway Genes

Cancers ◽  
2021 ◽  
Vol 13 (24) ◽  
pp. 6174
Author(s):  
Arianna Di Napoli ◽  
Davide Vacca ◽  
Giorgio Bertolazzi ◽  
Gianluca Lopez ◽  
Maria Piane ◽  
...  
Keyword(s):  
Rna Polymerase Ii ◽  
Rna Sequencing ◽  
Expression Profiles ◽  
Breast Implant ◽  
Gene Expression Profiles ◽  
Large Cell ◽  
Transcriptional Analysis ◽  
Chromosome 17 ◽  
Chromosome 1 ◽  
Anaplastic Lymphoma

Cutaneous and breast implant-associated anaplastic large-cell lymphomas (cALCLs and BI-ALCLs) are two localized forms of peripheral T-cell lymphomas (PTCLs) that are recognized as distinct entities within the family of ALCL. JAK-STAT signaling is a common feature of all ALCL subtypes, whereas DUSP22/IRF4, TP63 and TYK gene rearrangements have been reported in a proportion of ALK-negative sALCLs and cALCLs. Both cALCLs and BI-ALCLs differ in their gene expression profiles compared to PTCLs; however, a direct comparison of the genomic alterations and transcriptomes of these two entities is lacking. By performing RNA sequencing of 1385 genes (TruSight RNA Pan-Cancer, Illumina) in 12 cALCLs, 10 BI-ALCLs and two anaplastic lymphoma kinase (ALK)-positive sALCLs, we identified the previously reported TYK2-NPM1 fusion in 1 cALCL (1/12, 8%), and four new intrachromosomal gene fusions in 2 BI-ALCLs (2/10, 20%) involving genes on chromosome 1 (EPS15-GNG12 and ARNT-GOLPH3L) and on chromosome 17 (MYO18A-GIT1 and NF1-GOSR1). One of the two BI-ALCL samples showed a complex karyotype, raising the possibility that genomic instability may be responsible for intra-chromosomal fusions in BI-ALCL. Moreover, transcriptional analysis revealed similar upregulation of the PI3K/Akt pathway, associated with enrichment in the expression of neurotrophin signaling genes, which was more conspicuous in BI-ALCL, as well as differences, i.e., over-expression of genes involved in the RNA polymerase II transcription program in BI-ALCL and of the RNA splicing/processing program in cALCL.

Proteinuria and glomerulosclerosis in the Sabra genetic rat model of salt susceptibility

2002 ◽  
Vol 9 (3) ◽  
pp. 167-178 ◽  
Author(s):  
Chana Yagil ◽  
Marina Sapojnikov ◽  
Gurion Katni ◽  
Zvi Ilan ◽  
Sarah Weksler Zangen ◽  
...  
Keyword(s):  
Rat Model ◽  
Chromosome 17 ◽  
Chromosome 1 ◽  
Salt Loading ◽  
Protein Excretion ◽  
Histopathological Evaluation ◽  
Rat Strain ◽  
Salt Susceptible ◽  
Grade 3

In search of an experimental model that would simulate the association between proteinuria and salt sensitivity in humans, we studied protein excretion in the Sabra rat model of salt susceptibility. Monthly measurements of urinary protein excretion in animals fed standard rat chow revealed that normotensive salt-sensitive SBH/y developed proteinuria that averaged 65 ± 7 mg/day ( n = 10) at 9 mo, whereas proteinuria in normotensive salt-resistant SBN/y was 39 ± 4 mg/day ( n = 10) ( P < 0.01). Histopathological evaluation revealed focal and segmental glomerulosclerosis (FSGS) lesions grade 2 in SBH/y and normal histology in SBN/y. To amplify the differences between the strains, uninephrectomy was performed. At 9 mo, proteinuria in SBH/y with one kidney (SBH/y-1K) was 195 ± 12 mg/day ( n = 10) and in SBN/y was 128 ± 10 mg/day ( n = 10) ( P < 0.001); histopathology revealed FSGS grade 3 in SBH/y-1K and grade 1–2 in SBN/y-1K. To determine the effect of salt loading, animals were provided with 8% NaCl in chow, causing hypertension in SBH/y but not in SBN/y. Proteinuria markedly increased in both SBH/y with two kidneys (SBH/y-2K) and SBH/y-1K, but not in SBN/y; histopathology revealed FSGS grade 1–2 in SBH/y-2K, grade 2 in SBH/y-1K, no lesions in SBN/y-2K, and grade 0–1 in SBN/y-1K. We concluded that the SBH/y strain is more susceptible to develop proteinuria and glomerulosclerosis than SBN/y. In search for the genetic basis of this phenomenon, we investigated the role of candidate proteinuric gene loci. Consomic strains were constructed by introgressing chromosome 1 (which harbors the rf-1 and rf-2 proteinuric loci) or chromosome 17 (which harbors rf-5) from SBH/y onto the SBN/y genomic background. The resulting consomic strains developed marked proteinuria that was severalfold higher than in SBN/y-1K; histopathological evaluation, however, revealed FSGS lesions grade 1–2, similar to those found in SBN/y-1K and less severe than in SBH/y-1K. These results suggest a functional role of gene systems located on chromosomes 1 and 17 in inducing proteinuria in the salt-susceptible Sabra rat strain. These genetic loci do not appear to harbor major genes for glomerulosclerosis.

The Cystatin S gene maps to rat Chromosome 3, to which Dlmgh18 is re-assigned from Chromosome 1

1997 ◽  
Vol 8 (12) ◽  
pp. 946-947 ◽  
Author(s):  
M. Beatriz Duran Alonso ◽  
Paul Shiels ◽  
Andrew S. McCallion ◽  
Neil K. Bennett ◽  
Anthony P. Payne ◽  
...  
Keyword(s):  
Chromosome 1 ◽  
Chromosome 3 ◽  
S Gene ◽  
Gene Maps

scholarly journals Integration of gene maps: chromosome 1.

1992 ◽  
Vol 89 (10) ◽  
pp. 4598-4602 ◽  
Author(s):  
A. Collins ◽  
B. J. Keats ◽  
N. Dracopoli ◽  
D. C. Shields ◽  
N. E. Morton
Keyword(s):  
Chromosome 1 ◽  
Gene Maps
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