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Gender Identity and Leadership
Published in Danielle Laraque-Arena, Lauren J. Germain, Virginia Young, Rivers Laraque-Ho, Leadership at the Intersection of Gender and Race in Healthcare and Science, 2022
Let's zoom in to the DNA level, where information encoded in the human chromosome lays the blueprints for our bodies. Chromosomes aren't a significant part of discourse outside of classroom and clinical research contexts, with the notable exception of the “sex chromosome,” known for its role in sexual differentiation. Its catchy designations (male = XY, female = XX) have made it into the cultural lexicon, appearing in media and in conversation as gender shorthand. But the sex chromosome's role is both oversimplified and overblown, as Molly Webster explains in her 2019 TED talk.5 To start with, humans come in more varieties than just XX and XY, and with variant expressions of sex characteristics. These deviations from normative biological sex may be apparent at birth, if externally visible (e.g., atypical genitalia), or their internal workings may remain hidden for years. Webster (2019) reminds us of what happened to María José Martínez-Patiño, an Olympic athlete who failed sex verification testing in 1985 when her chromosome results came up XY. Her scholarship was revoked, her career cut short, her victories erased from the record, and her reputation and personal life destroyed. Even her friends and her fiancé stopped speaking to her (Martínez-Patiño, 2005).
ChIP-seq analysis
Published in Altuna Akalin, Computational Genomics with R, 2020
We can create genome browserlike visualizations using the Gviz package, which was introduced in Chapter 6. The Gviz is a tool which enables exhaustive customized visualization of genomics experiments. The basic usage principle is to define tracks, where each track can represent genomic annotation, or a signal profile; subsequently we define the order of the tracks and plot them. Here we will define two tracks, a genome axis, which will show the position along the human chromosome 21; and a signal track from our CTCF experiment.
The Genetic Body
Published in Roger Cooter, John Pickstone, Medicine in the Twentieth Century, 2020
Meanwhile, human genetics as a clinical discipline was becoming established, in large part, separately from these developments in understanding at the molecular level. Cytogenetic advances (including the final identification of the correct human chromosome number in 1956) led to discovery of the chromosomal basis of a number of congenital abnormalities — including Down’s syndrome (trisomy 21), and Klinefelter’s and Turner’s syndromes. New laboratory procedures made chromosomes much easier to visualize. They “gave us ‘our’ organ” as Victor McKusick put it.25
The prognostic value of the interaction between ASXL1 and TET2 gene mutations in patients with chronic myelomonocytic leukemia: a meta-analysis
Published in Hematology, 2022
Wenxia Zhao, Conghui Zhang, Yiming Li, Yang Li, Yang Liu, Xiaoyu Sun, Mingyan Liu, Rongguang Shao
The additional sex combs like 1 (ASXL1) gene involved in modulators of chromatin is located on human chromosome 20q11 and encodes a highly conserved protein [13, 16]. Similarly, the ASXL1 gene is also one of the most common mutated genes in malignant myeloid diseases. It was reported that myeloid tumors with the highest frequency of ASXL1 gene mutations were also CMML in MDS/MPN [14]. ASXL1 mutation is also related to the acute transformation of CMML. Patients with ASXL1MT (ASXL1 mutation) are prone to transform into acute myeloid leukemia (AML) [15, 17]. And this AML caused by CMML is a high-risk subtype, usually associated with poor prognosis and the abnormal changes related to myeloproliferation [18]. There were studies reporting that ASXL1 gene mutation was associated with a lower survival rate and decrease in CMML [19, 20]. It has been reported that 9 patients treated with hypo methylation medication during follow-up period, the prognosis of ASXL1MT was poor among 79 CMML patients [21]. However, data reported by MM Patnaik et al. showed that ASXL1MT had no effect on OS or leukemia-free survival in patients with CMML [22]. But there were a few studies indicating that ASXL1 has no relationship with prognosis. So, ASXL1, as an independent prognostic factor of CMML, was to be suspected.
Novel Deleterious Mutation in Steroid-5α-Reductase-2 in 46, XY Disorders of Sex Development: Case Report Study
Published in Fetal and Pediatric Pathology, 2022
Mahboobeh Rafigh, Arash Salmaninejad, Behzad Sorouri Khorashad, Azadeh Arabi, Saman Milanizadeh, Mehran Hiradfar, Mohammad reza Abbaszadegan
Five different types of 17β-HSD have been recognized that contribute in biogenesis of T [6]. 17β-HSD3 promotes development of the internal male genitalia such as epididymides, vas deferentia, seminal vesicles, and ejaculatory ducts [7]. Defects in 17β-HSD3 may occur because of mutations in hydroxysteroid-17β-dehydrogenase-3 (HSD17B3) gene that is mapped to human chromosome 9q22 and contains 11 exons. Up to date, near 40 various mutations such as intronic, splice site, deletions or duplications, as well as missense and nonsense mutations have been reported, found as homozygous or compound heterozygous [8]. Recent investigations suggest that low T to AD ratio after human chorionic gonadotrophin (HCG) stimulation test can identify 17β-HSD3 deficiency among 46, XY DSD cases [9].
Allelic polymorphisms of KIRs and antitumor immunity against chronic myeloid leukemia
Published in Immunological Medicine, 2021
Takero Shindo, Hiroshi Ureshino, Hiroto Kojima, Hidenori Tanaka, Shinya Kimura
KIR genes are located in the long arm of human chromosome 19 and include 9–15 activating and inhibitory genes. They are classified into centromere and telomere genes, and KIR haplotypes are defined according to the content of specific KIR genes. Haplotype A is defined by the presence of nine framework genes, namely KIR2DL4, KIR3DL2, KIR3DL3, KIR3DP1, pseudogenes KIR2DP1 and KIR2DL1, KIR2DL3, KIR2DS4 and KIR3DL1, whereas the existence of other genes defines haplotype B [4] (Figure 2). Haplotype A contains one activating receptor gene, KIR2DS4, and haplotype B contains several activating KIR genes. Each individual has two haplotypes, and haplotype AA is the most frequent in Japan, whereas the frequency of haplotype BB is low [5,6].