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Genetics and exercise: an introduction
Published in Adam P. Sharples, James P. Morton, Henning Wackerhage, Molecular Exercise Physiology, 2022
Claude Bouchard, Henning Wackerhage
Chromosomes have two arms and a central constriction which is termed the centromere. The short arm of a chromosome is denoted as p and the long arm as q. Each arm of the chromosome is subdivided into regions numbered consecutively from the centromere to the telomere which is the tip of each chromosome arm. Each band (i.e. the dark and light stripes of a chromosome seen in Figure 3.5) within a given region is identified by a number. With this nomenclature, it is possible to specify any chromosomal region by its “cytological address”. For example, chromosome 1 is composed of about 249 million (mega, M) DNA base pairs (Figure 3.6). 1p22 refers to chromosome 1, p arm, region 2, band 2. Since the sequence of the DNA bases of the entire human genome is now available, it is possible to specify a physical position on a given human chromosome in terms of the exact base number in a sequence ranging from one to millions. For instance, there are 4,300 genes encoded on chromosome 1. The gene KIF1B which encodes kinesin family member 1B codes for a motor protein that transports vesicles within cells. It is located on 1p36.22 and extends from 10.21 to 10.38 M bases of DNA.
Multiple Myeloma
Published in Pat Price, Karol Sikora, Treatment of Cancer, 2020
Cytogenetic abnormalities including loss of 17p13 by FISH and certain specific IgH translocations involving chromosomes 4 and 16 such as t(4;14), t(14;16) have a strong negative impact on prognosis. Chromosome 1q gain and the loss of chromosome 1p are also poor prognostic events although the relevant genes affected on 1q are not clear. Multiple FISH abnormalities are more powerfully adversely prognostic than single poor-risk FISH abnormalities. Gene expression profiling using microarray techniques is likely to allow molecular classification and importantly complements FISH in that it identifies some high-risk patients with no adverse FISH abnormalities.
Regulation of C-Reactive Protein, Haptoglobin, and Hemopexin Gene Expression
Published in Andrzej Mackiewicz, Irving Kushner, Heinz Baumann, Acute Phase Proteins, 2020
Dipak P. Ramji, Riccardo Cortese, Gennaro Ciliberto
CRP and SAP are probably derived by duplication of a common ancestor gene, since they show 54% identity in their amino acid sequences and 59% identity in their nucleotide sequence. Furthermore, both genes have been mapped to the same region on human chromosome 1 (between bands lq12 and q23).49,50 However, the behavior of these two genes during APR is species specific. For example, SAP is highly induced in mouse but not in man, while CRP is a prototype AP reactant in man and rabbits.46 CRP, therefore, represents an excellent model to investigate the regulation of gene expression in higher eukaryotes due to its strict liver-specific expression, high degree of inducibility in man, and species-specific participation in APR.
Chromosomal 1q21 abnormalities in multiple myeloma: a review of translational, clinical research, and therapeutic strategies
Published in Expert Review of Hematology, 2021
Kamlesh Bisht, Brian Walker, Shaji K. Kumar, Ivan Spicka, Philippe Moreau, Tom Martin, Luciano J. Costa, Joshua Richter, Taro Fukao, Sandrine Macé, Helgi van de Velde
The exact mechanism underlying the accumulation of copy number alterations in 1q21+ MM and their role in driving aggressive disease are starting to be elucidated [9]. In the late 1990s, Sawyer and colleagues elegantly showed that 1q21+ is brought about by duplications of all or part of chromosome 1q, whole-arm jumping translocations of 1q (JT1q), and trisomy of chromosome 1 [43]. Recurring JT1q were detected on chromosomes 5, 8, 12, 14, 16, 17, 19, 21, and 22 [43]. The primary mechanism of 1q21 amplification is JT1q12 [44,45]. The event initiating instability of chromosome 1 is postulated to be de-condensation of the peri-centromeric heterochromatin, which facilitates recombination and formation of unstable 1q translocations [43,46]. In particular, pericentromeric weakness of the 1q12 region, which lies adjacent to 1q21, results in JT1q and segmental duplications of 1q21 [31,47]. Segmental duplications can occur when 1q jumps to a nonhomologous chromosome followed by, either, 1q12–1q21 segment duplication or duplication of the proximal adjacent nonhomologous chromosome segment prior to 1q jumping or inserting itself into a new location [31].
Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis
Published in Ophthalmic Genetics, 2021
Fabiana Louise Motta, Rafael Filippelli-Silva, Joao Paulo Kitajima, Denise A. Batista, Elizabeth S. Wohler, Nara L. Sobreira, Renan Paulo Martin, Juliana Maria Ferraz Sallum
Gene panel sequencing analysis allowed the aforementioned hypotheses to be refuted or accepted. (i) In the absence of a paternity test, comparison of NGS data between the proband and his parents showed a similar number of chr2-22 variants inherited from his mother and the putative father. This is not compatible with the expected pattern of non-paternity. Chromosome 1 was excluded due to the odd mode of inheritance; (ii) A de novo mutation was rejected because 20 additional homozygous variants on chromosome 1 presented the same inheritance pattern as the RPE65 pathogenic variant, making the likelihood of 21 de novo events occurring simultaneously unlikely; (iii) The NGS raw data of the proband and his father suggested no gross deletion on chromosome 1, which was confirmed by the proband’s SNP array; (iv) The trio NGS analysis showed the proband’s chromosome 1 did not present exclusively paternal inherited variants, unlike what was observed in other autosomal chromosomes. Furthermore, SNP array revealed three large regions of homozygosity on chromosome 1 intercalated by heterozygous segments, suggesting the hypothesis of isodisomy and heterodysomy, respectively. One of these homozygous segments encompasses the RPE65 gene and, thereby, the pathogenic causative variant. All other chromosomes were largely heterozygous, suggesting a biparental inheritance pattern. Therefore, NGS analysis together with SNP array reinforces maternal UPD.
Analysis of chosen polymorphisms rs2476601 a/G – PTPN22, rs1990760 C/T – IFIH1, rs179247 a/G – TSHR in pathogenesis of autoimmune thyroid diseases in children
Published in Autoimmunity, 2018
Marta Rydzewska, Aleksandra Góralczyk, Joanna Gościk, Natalia Wawrusiewicz-Kurylonek, Anna Bossowska, Adam Krętowski, Artur Bossowski
The PTPN22 gene is located on the short (p) arm of chromosome 1 at position 13.2. PTPN22 is a powerful negative regulator of T-cell activation. It is generally accepted as a key factor in maintaining immune cellular homeostasis. Polymorphism of the PTPN22 gene is regarded as a risk factor of autoimmune diseases with prominent production of auto-antibodies. The polymorphism of the PTPN22 gene is known to be associated with susceptibility to GD in the European population, diabetes type I [8,9], systemic lupus erythematosus [10], rheumatoid arthritis [11,12] and myasthenia gravis [13], granulomatosis with polyangiitis [14], Addison’s disease [15], systemic sclerosis [16] and generalized vitiligo [17].