CRYM Monoclonal Antibody (M03), Clone

Total Page：16

File Type：pdf, Size：1020Kb

CRYM monoclonal antibody (M03), latter class constitutes the major proteins of vertebrate clone 6B3 eye lens and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific Catalog Number: H00001428-M03 crystallin protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The Regulatory Status: For research use only (RUO) encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for Product Description: Mouse monoclonal antibody possible regulatory or developmental roles. Multiple raised against a partial recombinant CRYM. alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] Clone Name: 6B3 References: Immunogen: CRYM (NP_001879, 215 a.a. ~ 314 a.a) 1. Overexpression of the double homeodomain protein partial recombinant protein with GST tag. MW of the DUX4c interferes with myofibrillogenesis and induces GST tag alone is 26 KDa. clustering of myonuclei. Vanderplanck C, Tassin A, Ansseau E, Charron S, Wauters A, Lancelot C, Sequence: Vancutsem K, Laoudj-Chenivesse D, Belayew A, EWVKPGAHINAVGASRPDWRELDDELMKEAVLYVDS Coppee F. Skelet Muscle. 2018 Jan 12;8(1):2. QEAALKESGDVLLSGAEIFAELGEVIKGVKPAHCEKTT 2. The FSHD Atrophic Myotube Phenotype Is Caused by VFKSLGMAVEDTVAAKLIYDSWSSGK DUX4 Expression. Vanderplanck C, Ansseau E, Charron S, Stricwant N, Tassin A, Laoudj-Chenivesse D, Wilton Host: Mouse SD, Coppee F, Belayew A. PLoS One. Reactivity: Human 2011;6(10):e26820. Epub 2011 Oct 28. 3. Comprehensive expression analysis of FSHD Applications: ELISA, IHC-P, IP, S-ELISA, WB-Ce, candidate genes at the mRNA and protein level. Klooster WB-Re, WB-Tr R, Straasheijm K, Shah B, Sowden J, Frants R, (See our web site product page for detailed applications Thornton C, Tawil R, van der Maarel S. Eur J Hum information) Genet. 2009 Dec;17(12):1615-24. Epub 2009 Oct 7. Protocols: See our web site at http://www.abnova.com/support/protocols.asp or product page for detailed protocols Isotype: IgG1 Kappa Storage Buffer: In 1x PBS, pH 7.4 Storage Instruction: Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing. Entrez GeneID: 1428 Gene Symbol: CRYM Gene Alias: DFNA40, THBP Gene Summary: Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The Page 1/1 Powered by TCPDF (www.tcpdf.org).

Copy Link

Recommended publications

Autism Multiplex Family with 16P11.2P12.2 Microduplication Syndrome in Monozygotic Twins and Distal 16P11.2 Deletion in Their Brother
European Journal of Human Genetics (2012) 20, 540–546 & 2012 Macmillan Publishers Limited All rights reserved 1018-4813/12 www.nature.com/ejhg ARTICLE Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother Anne-Claude Tabet1,2,3,4, Marion Pilorge2,3,4, Richard Delorme5,6,Fre´de´rique Amsellem5,6, Jean-Marc Pinard7, Marion Leboyer6,8,9, Alain Verloes10, Brigitte Benzacken1,11,12 and Catalina Betancur*,2,3,4 The pericentromeric region of chromosome 16p is rich in segmental duplications that predispose to rearrangements through non-allelic homologous recombination. Several recurrent copy number variations have been described recently in chromosome 16p. 16p11.2 rearrangements (29.5–30.1 Mb) are associated with autism, intellectual disability (ID) and other neurodevelopmental disorders. Another recognizable but less common microdeletion syndrome in 16p11.2p12.2 (21.4 to 28.5–30.1 Mb) has been described in six individuals with ID, whereas apparently reciprocal duplications, studied by standard cytogenetic and ﬂuorescence in situ hybridization techniques, have been reported in three patients with autism spectrum disorders. Here, we report a multiplex family with three boys affected with autism, including two monozygotic twins carrying a de novo 16p11.2p12.2 duplication of 8.95 Mb (21.28–30.23 Mb) characterized by single-nucleotide polymorphism array, encompassing both the 16p11.2 and 16p11.2p12.2 regions. The twins exhibited autism, severe ID, and dysmorphic features, including a triangular face, deep-set eyes, large and prominent nasal bridge, and tall, slender build. The eldest brother presented with autism, mild ID, early-onset obesity and normal craniofacial features, and carried a smaller, overlapping 16p11.2 microdeletion of 847 kb (28.40–29.25 Mb), inherited from his apparently healthy father.
[Show full text]
Linkage Analysis in 15 Families, Physical And
European Journal of Human Genetics (2002) 11, 145 – 154 ª 2002 Nature Publishing Group All rights reserved 1018 – 4813/02 $25.00 www.nature.com/ejhg ARTICLE Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes Blanka Stibu˚ rkova´1, Jacek Majewski2, Katerˇina Hodanˇova´1, Lenka Ondrova´1, Marke´ta Jerˇa´bkova´1, Marie Zika´nova´1, Petr Vylet’al1, Ivan Sˇebesta3, Anthony Marinaki4, Anne Simmonds4, Gert Matthijs5, Jean-Pierre Fryns5, Rosa Torres6, Juan Garcı´a Puig7, Jurg Ott2 and Stanislav Kmoch*,1 1Center for Integrated Genomics, Institute for Inherited Metabolic Disorders, Charles University 1st School of Medicine and General Faculty Hospital Prague, Czech Republic; 2Laboratory of Statistical Genetics, Rockefeller University, New York, NY, USA; 3Department of Clinical Biochemistry, Charles University 1st School of Medicine and General Faculty Hospital Prague, Czech Republic; 4Purine Research Unit, GKT, Guy’s Hospital, London, UK; 5Center for Human Genetics, University of Leuven, Leuven, Belgium; 6Department of Clinical Biochemistry, La Paz Hospital, Madrid, Spain; 7Division of Internal Medicine, La Paz Hospital, Madrid, Spain Familial juvenile hyperuricaemic nephropathy (FJHN) is an autosomal dominant renal disease characterised by juvenile onset of hyperuricaemia, gouty arthritis, and progressive renal failure at an early age. Recent studies in four kindreds showed linkage of a gene for FJHN to the same genomic interval on chromosome 16p11.2, where the gene for the phenotypically similar medullary cystic disease type 2 (MCKD2) has been localised. In this study we performed linkage analysis in additional 15 FJHN families.
[Show full text]
Identification of Potential Key Genes and Pathway Linked with Sporadic Creutzfeldt-Jakob Disease Based on Integrated Bioinformatics Analyses
medRxiv preprint doi: https://doi.org/10.1101/2020.12.21.20248688; this version posted December 24, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. All rights reserved. No reuse allowed without permission. Identification of potential key genes and pathway linked with sporadic Creutzfeldt-Jakob disease based on integrated bioinformatics analyses Basavaraj Vastrad1, Chanabasayya Vastrad*2 , Iranna Kotturshetti 1. Department of Biochemistry, Basaveshwar College of Pharmacy, Gadag, Karnataka 582103, India. 2. Biostatistics and Bioinformatics, Chanabasava Nilaya, Bharthinagar, Dharwad 580001, Karanataka, India. 3. Department of Ayurveda, Rajiv Gandhi Education Society`s Ayurvedic Medical College, Ron, Karnataka 562209, India. * Chanabasayya Vastrad [email protected] Ph: +919480073398 Chanabasava Nilaya, Bharthinagar, Dharwad 580001 , Karanataka, India NOTE: This preprint reports new research that has not been certified by peer review and should not be used to guide clinical practice. medRxiv preprint doi: https://doi.org/10.1101/2020.12.21.20248688; this version posted December 24, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. All rights reserved. No reuse allowed without permission. Abstract Sporadic Creutzfeldt-Jakob disease (sCJD) is neurodegenerative disease also called prion disease linked with poor prognosis. The aim of the current study was to illuminate the underlying molecular mechanisms of sCJD. The mRNA microarray dataset GSE124571 was downloaded from the Gene Expression Omnibus database. Differentially expressed genes (DEGs) were screened.
[Show full text]
Recombinant Human CRYM Protein Catalog Number: ATGP0559
Recombinant human CRYM protein Catalog Number: ATGP0559 PRODUCT INPORMATION Expression system E.coli Domain 1-314aa UniProt No. Q14894 NCBI Accession No. NP_001879 Alternative Names Crystallin mu, THBP, Crystallin mu CRYM, DFNA 40, DFNA40, Mu crystallin homolog, NADP regulated thyroid hormone binding protein, OTTHuMP00000115878. PRODUCT SPECIFICATION Molecular Weight 35.9 kDa (334aa) confirmed by MALDI-TOF Concentration 1mg/ml (determined by Bradford assay) Formulation Liquid in. 20mM Tris-HCl buffer (pH 8.0) containing 1mM DTT, 10% glycerol Purity > 95% by SDS-PAGE Tag His-Tag Application SDS-PAGE Storage Condition Can be stored at +2C to +8C for 1 week. For long term storage, aliquot and store at -20C to -80C. Avoid repeated freezing and thawing cycles. BACKGROUND Description Crystallin mu, also known as CRYM, is a member of the crystallin protein family. Crystallins are separated into two classes, taxon-specific and ubiquitous. This gene encodes a taxon-specific crystallin protein. The human CRYM gene maps to chromosome 16p13. 11, and encodes a protein that is expressed in neural tissue, muscle, and kidney. unlike other crystallins, CRYM does not perform a structural role in lens tissue, but rather it binds NADPH and thyroid hormone, which indicates that it may have other regulatory or developmental functions. 1 Recombinant human CRYM protein Catalog Number: ATGP0559 Recombinant human CRYM, fused to His-tag at N-terminus, was expressed in E. coli and purified by using conventional chromatography techniques. Amino acid Sequence MGSSHHHHHH SSGLVPRGSH MSRVPAFLSA AEVEEHLRSS SLLIPPLETA LANFSSGPEG GVMQPVRTVV PVTKHRGYLG VMPAYSAAED ALTTKLVTFY EDRGITSVVP SHQATVLLFE PSNGTLLAVM DGNVITAKRT AAVSAIATKF LKPPSSEVLC ILGAGVQAYS HYEIFTEQFS FKEVRIWNRT KENAEKFADT VQGEVRVCSS VQEAVAGADV IITVTLATEP ILFGEWVKPG AHINAVGASR PDWRELDDEL MKEAVLYVDS QEAALKESGD VLLSGAEIFA ELGEVIKGVK PAHCEKTTVF KSLGMAVEDT VAAKLIYDSW SSGK General References Kim RY., et al.
[Show full text]
Brain Region-Specific Gene Signatures Revealed by Distinct Astrocyte Subpopulations Unveil Links to Glioma and Neurodegenerative
New Research Disorders of the Nervous System Brain Region-Specific Gene Signatures Revealed by Distinct Astrocyte Subpopulations Unveil Links to Glioma and Neurodegenerative Diseases Raquel Cuevas-Diaz Duran,1,2,3 Chih-Yen Wang,4 Hui Zheng,5,6,7 Benjamin Deneen,8,9,10,11 and Jia Qian Wu1,2 https://doi.org/10.1523/ENEURO.0288-18.2019 1The Vivian L. Smith Department of Neurosurgery, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas 77030, 2Center for Stem Cell and Regenerative Medicine, UT Brown Foundation Institute of Molecular Medicine, Houston, Texas 77030, 3Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey NL 64710, Mexico, 4Department of Life Sciences, National Cheng Kung University, Tainan City 70101, Taiwan, 5Huffington Center on Aging, 6Medical Scientist Training Program, 7Department of Molecular and Human Genetics, 8Center for Cell and Gene Therapy, 9Department of Neuroscience, 10Neurological Research Institute at Texas’ Children’s Hospital, and 11Program in Developmental Biology, Baylor College of Medicine, Houston, Texas 77030 Abstract Currently, there are no effective treatments for glioma or for neurodegenerative diseases because of, in part, our limited understanding of the pathophysiology and cellular heterogeneity of these diseases. Mounting evidence suggests that astrocytes play an active role in the pathogenesis of these diseases by contributing to a diverse range of pathophysiological states. In a previous study, five molecularly distinct astrocyte subpopulations from three different brain regions were identified. To further delineate the underlying diversity of these populations, we obtained mouse brain region-specific gene signatures for both protein-coding and long non-coding RNA and found that these astrocyte subpopulations are endowed with unique molecular signatures across diverse brain regions.
[Show full text]
Mu Crystallin (CRYM) Mouse Monoclonal Antibody [Clone ID: OTI1B5] – TA501433 | Origene
OriGene Technologies, Inc. 9620 Medical Center Drive, Ste 200 Rockville, MD 20850, US Phone: +1-888-267-4436 [email protected] EU: [email protected] CN: [email protected] Product datasheet for TA501433 mu Crystallin (CRYM) Mouse Monoclonal Antibody [Clone ID: OTI1B5] Product data: Product Type: Primary Antibodies Clone Name: OTI1B5 Applications: IF, IHC, WB Recommend Dilution: WB: 1:200 - 1:1000, IHC 1:300, IF 1:100 Reactivity: Human Host: Mouse Isotype: IgG2a Clonality: Monoclonal Immunogen: Full length human recombinant protein of human CRYM (NP_001879) produced in HEK293T cell. Formulation: PBS (pH 7.3) containing 1% BSA, 50% glycerol and 0.02% sodium azide. Concentration: 0.58 mg/ml Purification: Purified from mouse ascites fluids or tissue culture supernatant by affinity chromatography (protein A/G) Predicted Protein Size: 33.6 kDa Gene Name: crystallin mu Database Link: NP_001879 Entrez Gene 1428 Human Background: Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific crystallin protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory or developmental roles. Mutations in this gene have been associated with autosomal dominant non-syndromic deafness. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] Synonyms: DFNA40; THBP This product is to be used for laboratory only.
[Show full text]
Product Size GOT1 P00504 F CAAGCTGT
Table S1. List of primer sequences for RT-qPCR. Gene Product Uniprot ID F/R Sequence(5’-3’) name size GOT1 P00504 F CAAGCTGTCAAGCTGCTGTC 71 R CGTGGAGGAAAGCTAGCAAC OGDHL E1BTL0 F CCCTTCTCACTTGGAAGCAG 81 R CCTGCAGTATCCCCTCGATA UGT2A1 F1NMB3 F GGAGCAAAGCACTTGAGACC 93 R GGCTGCACAGATGAACAAGA GART P21872 F GGAGATGGCTCGGACATTTA 90 R TTCTGCACATCCTTGAGCAC GSTT1L E1BUB6 F GTGCTACCGAGGAGCTGAAC 105 R CTACGAGGTCTGCCAAGGAG IARS Q5ZKA2 F GACAGGTTTCCTGGCATTGT 148 R GGGCTTGATGAACAACACCT RARS Q5ZM11 F TCATTGCTCACCTGCAAGAC 146 R CAGCACCACACATTGGTAGG GSS F1NLE4 F ACTGGATGTGGGTGAAGAGG 89 R CTCCTTCTCGCTGTGGTTTC CYP2D6 F1NJG4 F AGGAGAAAGGAGGCAGAAGC 113 R TGTTGCTCCAAGATGACAGC GAPDH P00356 F GACGTGCAGCAGGAACACTA 112 R CTTGGACTTTGCCAGAGAGG Table S2. List of differentially expressed proteins during chronic heat stress. score name Description MW PI CC CH Down regulated by chronic heat stress A2M Uncharacterized protein 158 1 0.35 6.62 A2ML4 Uncharacterized protein 163 1 0.09 6.37 ABCA8 Uncharacterized protein 185 1 0.43 7.08 ABCB1 Uncharacterized protein 152 1 0.47 8.43 ACOX2 Cluster of Acyl-coenzyme A oxidase 75 1 0.21 8 ACTN1 Alpha-actinin-1 102 1 0.37 5.55 ALDOC Cluster of Fructose-bisphosphate aldolase 39 1 0.5 6.64 AMDHD1 Cluster of Uncharacterized protein 37 1 0.04 6.76 AMT Aminomethyltransferase, mitochondrial 42 1 0.29 9.14 AP1B1 AP complex subunit beta 103 1 0.15 5.16 APOA1BP NAD(P)H-hydrate epimerase 32 1 0.4 8.62 ARPC1A Actin-related protein 2/3 complex subunit 42 1 0.34 8.31 ASS1 Argininosuccinate synthase 47 1 0.04 6.67 ATP2A2 Cluster of Calcium-transporting
[Show full text]
Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss
G C A T T A C G G C A T genes Article Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss Kenjiro Sugiyama 1, Hideaki Moteki 1, Shin-ichiro Kitajiri 1, Tomohiro Kitano 1, Shin-ya Nishio 1,2 , Tomomi Yamaguchi 3,4, Keiko Wakui 3,4, Satoko Abe 5, Akiko Ozaki 6, Remi Motegi 7, Hirooki Matsui 8, Masato Teraoka 9, Yumiko Kobayashi 10, Tomoki Kosho 3,4 and Shin-ichi Usami 1,2,* 1 Department of Otorhinolaryngology, School of Medicine, Shinshu University, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan; [email protected] (K.S.); [email protected] (H.M.); [email protected] (S.K.); [email protected] (T.K.); [email protected] (S.N.) 2 Department of Hearing Implant Sciences, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan 3 Department of Medical Genetics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan; [email protected] (T.Y.); [email protected] (K.W.); [email protected] (T.K.) 4 Center for Medical Genetics, Shinshu University Hospital, Matsumoto Nagano 390-8621, Japan 5 Department of Otorhinolaryngology, Toranomon Hospital, 2-2-2 Toranomon, Minato-ku, Tokyo 105-8470, Japan; [email protected] 6 Department of Otorhinolaryngology-Head and Neck Surgery, Osaka Medical College, 2-7 Daigaku-machi, Takatsuki, Osaka 569-8686, Japan; [email protected] 7 Department of Otorhinolaryngology, Juntendo University, 2-1-1 Hongo, Bunkyo-ku 113-8421, Japan; [email protected] 8 Department
[Show full text]
Possible Positive Selection on the Regulation of TMEM159-ZP2-CRYM in Human Cerebellum
INTERNATIONAL JOURNAL OF ENVIRONMENTAL & SCIENCE EDUCATION 2016, VOL. 11, NO. 18, 13001-13022 OPEN ACCESS Possible Positive Selection on the Regulation of TMEM159-ZP2-CRYM in Human Cerebellum Ganjcai Xiea, Xi Jianga, Ning Fub and Philip Khaytovicha, b, c aShanghai Institute for Biological Sciences, CAS, Shanghai, CHINA; bSkolkovo Institute for Science and Technology, Skolkovo, RUSSIA; cThe Immanuel Kant Baltic Federal University, Kaliningrad, RUSSIA. ABSTRACT At this post-genome age, we have already known that human has quite similar genome compared to its closest extant cousin, chimpanzee. It had been proposed that the changes at the regulation level rather than at the protein coding sequence level play more important roles during human evolution. In this study, we focused on the genes that are conserved among human, chimpanzee and rhesus macaques, and examined the ones that possibly went through positive selection on gene expression regulation in human. Interestingly, our study revealed one previously un-characterized gene cluster TMEM159-ZP2-CRYM that is specifically regulated in the human genome. The genes in this cluster show dramatic age-related changes in human cerebellum, specifically, they are co-up regulated at early human cerebellum post-natal developmental stage and keep their high expression levels to the whole later life span. To carry out this inter-species gene expression comparison, we had developed a new method named BITS, which is based on high-throughput transcriptome sequencing data and can estimate the gene expression level for different species in more conserved and balanced way. Based on BITS method, we observed significant divergence to diversity ratio difference between protein-coding genes and pseudogenes as well as more species-specific up-regulated genes in human brain areas than in non-brain tissues.
[Show full text]
Ornithine Cyclodeaminase/Î¼-Crystallin Homolog from The
FEBS Open Bio 4 (2014) 617–626 journal homepage: www.elsevier.com/locate/febsopenbio Ornithine cyclodeaminase/l-crystallin homolog from the hyperthermophilic archaeon Thermococcus litoralis functions as a novel D1-pyrroline-2-carboxylate reductase involved in putative trans-3- hydroxy-L-proline metabolism ⇑ Seiya Watanabe a, , Yuzuru Tozawa b, Yasuo Watanabe a a Faculty of Agriculture, Ehime University, 3-5-7 Tarumi, Matsuyama, Ehime 790-8566, Japan b Proteo-Science Center, Ehime University, 3 Bunkyo-cho, Matsuyama, Ehime 790-8577, Japan article info abstract Article history: L-Ornithine cyclodeaminase (OCD) is involved in L-proline biosynthesis and catalyzes the unique 1 Received 24 April 2014 deaminating cyclization of L-ornithine to L-proline via a D -pyrroline-2-carboxyrate (Pyr2C) inter- Revised 25 June 2014 mediate. Although this pathway functions in only a few bacteria, many archaea possess OCD-like Accepted 7 July 2014 genes (proteins), among which only AF1665 protein (gene) from Archaeoglobus fulgidus has been + characterized as an NAD -dependent L-alanine dehydrogenase (AfAlaDH). However, the physiologi- cal role of OCD-like proteins from archaea has been unclear. Recently, we revealed that Pyr2C reduc- tase, involved in trans-3-hydroxy-L-proline (T3LHyp) metabolism of bacteria, belongs to the OCD Keywords: protein superfamily and catalyzes only the reduction of Pyr2C to L-proline (no OCD activity) [FEBS Ornithine cyclodeaminase D1-pyrroline-2-carboxylate reductase Open Bio (2014) 4, 240–250]. In this study, based on bioinformatics analysis, we assumed that the Molecular evolution OCD-like gene from Thermococcus litoralis DSM 5473 is related to T3LHyp and/or proline metabolism trans-3-Hydroxy-L-proline metabolism (TlLhpI).
[Show full text]
Identification of Three Novel Ca Channel Subunit Genes Reveals
Downloaded from genome.cshlp.org on October 4, 2021 - Published by Cold Spring Harbor Laboratory Press Letter Identification of Three Novel Ca2+ Channel ␥ Subunit Genes Reveals Molecular Diversification by Tandem and Chromosome Duplication Daniel L. Burgess,1,2 Caleb F. Davis,1 Lisa A. Gefrides,1 and Jeffrey L. Noebels1 1Department of Neurology, Baylor College of Medicine, Houston, Texas 77030 USA Gene duplication is believed to be an important evolutionary mechanism for generating functional diversity within genomes. The accumulated products of ancient duplication events can be readily observed among the genes encoding voltage-dependent Ca2+ ion channels. Ten paralogous genes have been identified that encode isoforms of the ␣1 subunit, four that encode ␤ subunits, and three that encode ␣2␦ subunits. Until recently, only a single gene encoding a muscle-specific isoform of the Ca2+ channel ␥ subunit (CACNG1) was known. Expression of a distantly related gene in the brain was subsequently demonstrated upon isolation of the Cacng2 gene, which is mutated in the mouse neurological mutant stargazer (stg). In this study, we sought to identify additional genes that encoded ␥ subunits. Because gene duplication often generates paralogs that remain in close syntenic proximity (tandem duplication) or are copied onto related daughter chromosomes (chromosome or whole-genome duplication), we hypothesized that the known positions of CACNG1 and CACNG2 could be used to predict the likely locations of additional ␥ subunit genes. Low-stringency genomic sequence analysis of targeted regions led to the identification of three novel Ca2+ channel ␥ subunit genes, CACNG3, CACNG4, and CACNG5,on chromosomes 16 and 17. These results demonstrate the value of genome evolution models for the identification of distantly related members of gene families.
[Show full text]
A Thyroid Hormone Binding Protein
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/ licenses/ by-nc-nd/4.0), which permits copy and redistribute the material in any medium or format, provided the original work is properly cited. ENDOCRINE REGULATIONS, Vol. 55, No. 2, 89–102, 2021 89 doi:10.2478/enr-2021-0011 µ-Crystallin: A thyroid hormone binding protein Christian J. Kinney & Robert J. Bloch Department of Physiology School of Medicine, University of Maryland, Baltimore, Baltimore, MD 21201 E-mail: [email protected] µ-Crystallin is a NADPH-regulated thyroid hormone binding protein encoded by the CRYM gene in humans. It is primarily expressed in the brain, muscle, prostate, and kidney, where it binds thyroid hormones, which regulate metabolism and thermogenesis. It also acts as a ketimine re- ductase in the lysine degradation pathway when it is not bound to thyroid hormone. Mutations in CRYM can result in non-syndromic deafness, while its aberrant expression, predominantly in the brain but also in other tissues, has been associated with psychiatric, neuromuscular, and inflamma- tory diseases. CRYM expression is highly variable in human skeletal muscle, with 15% of individu- als expressing ≥13 fold more CRYM mRNA than the median level. Ablation of the Crym gene in murine models results in the hypertrophy of fast twitch muscle fibers and an increase in fat mass of mice fed a high fat diet. Overexpression of Crym in mice causes a shift in energy utilization away from glycolysis towards an increase in the catabolism of fat via β-oxidation, with commensurate changes of metabolically involved transcripts and proteins.
[Show full text]