DOCSLIB.ORG

Assignment of Genes to Leishmania Infantum Chromosomes: Karyotype and Ploidy

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Assignment of Genes to Leishmania Infantum Chromosomes: Karyotype and Ploidy ELSEVIER FEMS Microbiology Letters 129 (1995) 27-32 Downloaded from https://academic.oup.com/femsle/article/129/1/27/441076 by guest on 24 September 2021 Assignment of genes to Leishmania infantum chromosomes: karyotype and ploidy Manuel Soto, Jose M. Requena, David Moreira, Carlos Alonso * Centro de Biologia Molecular “Se~ro Ochoa’ ‘, Unimmrdad Authoma de Madrid, Cantoblanco, 28049 Madrid, Spain Received 20 March 1995; accepted 23 March 1995 Abstract The use of various pulsed-field electrophoresis methodologies under different conditions allowed us to determine the Leishmania infanturn karyotype. A total of 25 chromosomal bands ranging in size from 375 to 3300 kb were resolved amounting to a minimum genomic DNA mass of about 2.6 X IO’ pb. By molecular hybridization and on the basisof the karyotype. specific gene sequences could be assigned to particular chromosomes. A bias in the chromosomal distribution of different markers was found since 9 out of the 12 analysed gene markers hybridize with chromosomal bands XIXa and XIXb. We infer that chromosomal bands XlXa and XIXb, differing in about 30 kb, could be representing a pair of homologous chromosomes and that another pair of homologs may be also defined by chromosomal bands XVII and XVIII. Keywords: Leishmania; Pulsed-field gel electrophoresis; Ploidy; Homologous chromosomes; Gene location 1. Introduction It seems that the housekeeping genes usually are located in diploid chromosomes[4], whereas part of Since genetic material of trypanosomes never its chromosomal complement could be haploid [5]. condensesduring their life cycle, karyotype analysis Based on the molecular karyotype of Leishmania through conventional cytogenetics is not possible. infantum, determined by the use of different PFGE However, the advent of pulse-field gradient gel elec- methods and conditions, we report the chromosomal trophoresis (PFGE) presentsan opportunity to char- location of several relevant genes. This study pro- acterize the number and organization of the chromo- vides strong evidence for the diploid condition of somes of parasitic protozoa. These studies have chromosomeXIX and showsthat chromosomesXVII demonstratedthe existence of variations in the chro- and XVIII may also represent a pair of homologs. mosome size and chromosomal distribution of se- lected genes among several species of kinetoplastid parasites [l-3]. In spite of the knowledge about the 2. Materials and methods genome structure of these organisms, there is a controversy related with the problem of their ploidy. 2.1. Strains and media * Corresponding author. Tel.: + 34 (1) 397 84.54; Fax: + 34 (1) Leishmania donor>ani infantum LEM75 397 4799 (MHOM/FR/78/LEM75) was used as reference 037%1097/95/$09.50 % 19YS Federation of European Microbiological Societies. All rights reserved SSDI 0378.1097(YS)OO129-8 organism, grown at 2h” C in RPM1 medium contain- stained in 0.5 X TBE containing 0.5 pg ml-’ of ing 10% of heat-inactivated fetal calf serum. ethidium bromide. Chromosome sizes were determined using the 2.2. Preparation of genotnic DNA following size standards: Pichiu sp. mix (P. scolytii and P. mississlppiensis)and Saccharomyces cere- Cells grown to stationary phase (10’ cells ml- ‘) r.i.siae YN295 as well as phage lambda concatemers (Pharmacia). were collected by centrifugation at low speed, and Downloaded from https://academic.oup.com/femsle/article/129/1/27/441076 by guest on 24 September 2021 DNA in agarose blocks was prepared as described [61. 2.4. DNA probes The DNA probes used in the present work and their sources were: L. infanturn hsp70 and hsp83 Gels were cast with 1% agaroae in 0.5 X TBE cDNAs, and Trypunosomu cruzi 1% rDNA, cloned buffer (45 mM Tris, 45 mM borate, 1 mM EDTA, in our laboratory (unpublished); T. cruzi (Y- and pH X.0). Both orthogonal field alternating gel elec- P-tubulin cDNAs, clones pTc a3 and pTcp4 [9]; trophoresis (OFAGE) [7] and contour-clamped ho- Drosophila melanogaster ubiquitin, clone pDm63F mogeneouselectric field electrophoresis(CHEF) [8] [lo]; L. infantum histone H2A cDNA, clone cL71 were performed at 15” C in a Pharmacia-LKB appa- [ 111; L. infanturn ribosomal protein PO cDNA [12], ratus. Different chromosome sizes were resolved by cDNAs coding for the acidic ribosomal proteins LIP several pulse times between 60 and 500 s. Gels were and LIP’ [ 131; L. infuntutn histone H3 cDNA [ 141; L. P A Fig. I. Molecular karyotypc of I.. infumm. Two elcctrophtrretic techniques were used: OFAGE (lanes A. C) and CHEF (lanes B, B’). Pulse time and voltage conditionb WCTL‘: lane A and marker p, ilKI s and 200 V; lanes B and B’, 65-W s ramping pulse and 170 V; lane C and markers y and Ic, 6OLSOO 5 ramping pulse and 3X) V. All gels wcrc run for Jb’ h at 15” C. The chromosomal bands have been numbered from lower to higher molecular Gzc. The chromnwmal size marker\ used are: Pickia sp. mix (law p), S. crrerGze (lane y) and phage lambda concatemcrs (lane Ic). M. Soto et al. / FEMS Microbiology Letten 129 (1995) 27-32 29 infanturn PSA clone was derived from the nucleotide for more details). In agreement with previously re- sequence of the L. major promastigote surface anti- ported data for the same strain of L. infanturn [16], gen (PSA) gene [151 by PCR amplification. 24 chromosomal bands can be clearly resolved. The only difference with the data reported is that the 2.5. Hybridization conditions chromosomal band XIX was resolved in two sepa- rate bands (lane A) when a 500-s pulse was used. All hybridizations were performed at 42” C in The size of the chromosomal bands was estimated Downloaded from https://academic.oup.com/femsle/article/129/1/27/441076 by guest on 24 September 2021 6 x SSC, 50% formamide, 1% SDS and 100 Fg from the direct correlation into the resolution win- ml-’ of denatured herring sperm DNA. The final dow for each pulse-time between the logarithm of post-hybridization washes were done in 0.1 X the band size and its relative mobility using three SSC/O.2% SDS at 60” C. standard size markers (Fig. 1). We estimated that the molecular size of the largest chromosome (XXIV) is about 3300 kb, somewhat higher than that reported 3. Results previously [16]. It is likely that the difference be- tween the two estimates is due to the high degree of Fig. 1 shows the molecular karyotype of L. infan- linear resolution which arises from the PFGE condi- turn as it results from the compositional analysis tion used. A calculation of the total DNA mass of all obtained using different pulse times and elec- the chromosomes indicates that the genomic DNA trophoretic conditions (see Materials and methods mass should be about 2.6 X 10’ bp. This amount of 2 5 6 7 - xlxa -XIX - XlXb -x Fig. 2. Chromosomal gene location in L. infanturn karyotype. Chromosomes were separated by PFGE and the DNA was blotted to nylon membranes and hybridized with the probes: lane I, P-tubulin; lane 2, histonc H2A (the same pattern was obtained with the probe of the histone H3); lane 3. cu-tubulin; lane 4, PSA (the same pattern was obtained with the probe Lip’); lane 5, hsp70; lane 6, PO (the same pattern was also obtained with the probes ubiquitin. LIP, hsp83 or 18s rDNA). Lane 7 illustrates the labelling of both chromosomal bands XIX by the probe LIP. Only the chromosomal bands that were labelled are numbered. 30 M. Soto et al. / FEMS Microbiology Letters 129 (1995) 27-32 DNA mass must be considered a minimum estimate of the chromosomes associated with band XIX, all of since we cannot exclude the existence in some bands the nine markers hybridized with band XIXa and of more than one chromosome of similar length. In XIXb with similar hybridization intensity (Fig. 2, fact, the intensity of the ethidium bromide staining of lane 7). Moreover, two of these markers, the acidic the chromosomal band XX, significantly higher than ribosomal protein LiP [13] and LiPO [12] are coded it would be expected for its molecular size, probably by two ligated genes, respectively. Since four of the suggests that more than a single chromosome exist in genetic markers belonging to the histone H2A, his- Downloaded from https://academic.oup.com/femsle/article/129/1/27/441076 by guest on 24 September 2021 that band. tone H3, P-tubulin and hsp70 genes that hybridized In order to assign the location of genes to chro- with the XIXa and XIXb chromosomal bands also mosomal bands and based in the rationale that if a hybridize with chromosomal bands XIV, XIV, VIII group of genes have alleles in chromosomes of and XIV, and with X, respectively, it is likely that in similar molecular size they could be considered ho- L.infantum a group of gene families might exist that mologous we have determined the chromosomal lo- map to multiple unlinked chromosomal loci, as re- cation of 12 different genetic markers. Fig. 2 (lanes ported for the L. major tubulin gene family [17]. l-6) and Table 1 show examples of the chromoso- The promastigote surface antigen and ribosomal Lip’ ma1 location of some of the markers and a summary protein DNA markers hybridize with chromosomal of the chromosomal positioning of all the markers bands XVII and XVIII. Since in the Leishmania tested, respectively. The experiments also indicated genome there are only two genes tandemly arrayed, that 9 out of the 12 genetic markers locate in the coding for the ribosomal Lip’ proteins [13], it is chromosomal band XIX and this band could be probable that also these two bands can be considered resolved in two. As expected from a diploid nature as a pair of homologs.
Load more

Recommended publications
  • Pedigrees and Karyotypes Pedigree
    Pedigrees and Karyotypes Pedigree A pedigree shows the relationships within a family and it helps to chart how one gene can be passed on from generation to generation. Pedigrees are tools used by genetic researchers or counselors to identify a genetic condition running through a family, they aid in making a diagnosis, and aid in determining who in the family is at risk for genetic conditions. On a pedigree: A circle represents a female A square represents a male A horizontal line connecting a male and female represents a marriage A vertical line and a bracket connect the parents to their children A circle/square that is shaded means the person HAS the trait. A circle/square that is not shaded means the person does not have the trait. Children are placed from oldest to youngest. A key is given to explain what the trait is. Marriage Male-DAD Female-MOM Has the trait Male-Son Female-daughter Female-daughter Male- Son Oldest to youngest Steps: ff Ff •Identify all people who have the trait. •For the purpose of this class all traits will be given to you. In other instances, you would have to determine whether or not the trait is autosomal dominant, autosomal recessive, or sex- linked. •In this example, all those who have the trait are homozygous recessive. •Can you correctly identify all genotypes of this family? ff ff Ff Ff •F- Normal •f- cystic fibrosis Key: affected male affected female unaffected male unaffected female Pp Pp PKU P- Unaffected p- phenylketonuria PP or Pp pp Pp pp pp Pp Pp Key: affected male affected female unaffected male unaffected female H-huntington’s hh Hh disease h-Unaffected Hh hh Hh hh Hh hh hh Key: affected male affected female unaffected male unaffected female Sex-Linked Inheritance Colorblindness Cy cc cy Cc Cc cy cy Key: affected male affected female unaffected male unaffected female Karyotypes To analyze chromosomes, cell biologists photograph cells in mitosis, when the chromosomes are fully condensed and easy to see (usually in metaphase).
    [Show full text]
  • Cytogenetics, Chromosomal Genetics
    Cytogenetics Chromosomal Genetics Sophie Dahoun Service de Génétique Médicale, HUG Geneva, Switzerland [email protected] Training Course in Sexual and Reproductive Health Research Geneva 2010 Cytogenetics is the branch of genetics that correlates the structure, number, and behaviour of chromosomes with heredity and diseases Conventional cytogenetics Molecular cytogenetics Molecular Biology I. Karyotype Definition Chromosomal Banding Resolution limits Nomenclature The metaphasic chromosome telomeres p arm q arm G-banded Human Karyotype Tjio & Levan 1956 Karyotype: The characterization of the chromosomal complement of an individual's cell, including number, form, and size of the chromosomes. A photomicrograph of chromosomes arranged according to a standard classification. A chromosome banding pattern is comprised of alternating light and dark stripes, or bands, that appear along its length after being stained with a dye. A unique banding pattern is used to identify each chromosome Chromosome banding techniques and staining Giemsa has become the most commonly used stain in cytogenetic analysis. Most G-banding techniques require pretreating the chromosomes with a proteolytic enzyme such as trypsin. G- banding preferentially stains the regions of DNA that are rich in adenine and thymine. R-banding involves pretreating cells with a hot salt solution that denatures DNA that is rich in adenine and thymine. The chromosomes are then stained with Giemsa. C-banding stains areas of heterochromatin, which are tightly packed and contain
    [Show full text]
  • Mitosis Meiosis Karyotype
    POGIL Cell Biology Activity 7 – Meiosis/Gametogenesis Schivell MODEL 1: karyotype Meiosis Mitosis 1 POGIL Cell Biology Activity 7 – Meiosis/Gametogenesis Schivell MODEL 2, Part 1: Spermatogenesis The trapezoid below represents a small portion of the wall of a "seminiferous tubule" within the testis. The cells in each of the panels are all originally derived from the single cell in panel 1. 1 2 3 Outside of tubule Lumen of tubule 4 5 6 7 8 9 2 POGIL Cell Biology Activity 7 – Meiosis/Gametogenesis Schivell MODEL 2, Part 2: vas epididymis deferens testis (plural: testes) seminiferous tubules (cut) Courtesy of: Dr. E. Kent Christensen, U. of Michigan lumen of seminiferous tubule sperm This portion shown expanded in part 1 of Model 2 3 POGIL Cell Biology Activity 7 – Meiosis/Gametogenesis Schivell MODEL 3: Oogenesis This is a time lapse of an ovary showing one "follicle" as it develops from immaturity to ovulation. The follicle starts in panel 1 as a small sphere of "follicle cells" surrounding the oocyte. In each panel, chromosomes within the oocyte are shown as an inset. (There are actually thousands of follicles in each mammalian ovary). 1 2 3 4 5 6 7 4 POGIL Cell Biology Activity 7 – Meiosis/Gametogenesis Schivell Model 1 questions: 1. Using the same type of cartoon as model 1, draw an "unreplicated", condensed chromosome. 2. Draw a replicated, condensed chromosome: 3. Circle a homologous pair in the karyotype. Remember that one of these chromosomes came from the male parent and the other from the female parent. These two chromosomes carry the same genes! (But can have different alleles on each homolog.) 4.
    [Show full text]
  • Comprehensive Chromosomal and Mitochondrial Copy Number Profiling in Human IVF Embryos
    ARTICLE IN PRESS 1bs_bs_query Q2 Article 2bs_bs_query 3bs_bs_query Comprehensive chromosomal and mitochondrial copy 4bs_bs_query 5bs_bs_query number profiling in human IVF embryos 6bs_bs_query Q1 a,1, a,1 a a 7bs_bs_query Wei Shang *, Yunshan Zhang , Mingming Shu , Weizhou Wang , a a b b, b b 8bs_bs_query Likun Ren , Fu Chen , Lin Shao , Sijia Lu *, Shiping Bo , Shujie Ma , b 9bs_bs_query Yumei Gao a 10bs_bs_query Assisted Reproductive Centre of the Department of Gynaecology and Obstetrics, PLA Naval General Hospital, 11 bs_bs_query Haidian District, Beijing 100048, China b 12bs_bs_query Yikon Genomics, Fengxian District, Shanghai 201400, China 13bs_bs_query 14bs_bs_query 15bs_bs_query Wei Shang has been the Associate Chief Physician at the Department of Gynaecology and Obstetrics, PLA Naval 16bs_bs_query General Hospital, Beijing, since 2005. Her research interests focus on assisted reproduction technology, repro- 17bs_bs_query ductive endocrinology and ovary dysfunction. 18bs_bs_query 19bs_bs_query KEY MESSAGE 20bs_bs_query Using a validated approach called MALBAC-NGS, a comprehensive chromosomal and mitochondrial copy number 21bs_bs_query profiling in human embryos was conducted, and correlations of mitochondria quantity with maternal age and 22bs_bs_query embryo stage were observed. The strategy might be used to perform an advanced PGS targeting both chro- 23bs_bs_query mosomal and mitochondria copy numbers. 24bs_bs_query 25bs_bs_query ABSTRACT 26bs_bs_query 27bs_bs_query Single cell whole genome sequencing helps to decipher the genome
    [Show full text]
  • Fate of Mitochondrial DNA in Human-Mouse Somatic Cell Hybrids (Density Gradient Centrifugation/Ethidium Bromide/Karyotype)
    Proc. Nat. Acad. Sci. USA Vol. 69, No. 1, pp. 129-133, January 1972 Fate of Mitochondrial DNA in Human-Mouse Somatic Cell Hybrids (density gradient centrifugation/ethidium bromide/karyotype) BARBARA ATTARDI* AND GIUSEPPE ATTARDI* Centre de Gen6tique Molculaire, 91 Gif-sur-Yvette, France Communicated by Boris Ephrussi, November 3, 1971 ABSTRACT Several hybrid lines between human and In the present work, the fate of parental mit-DNA was mouse somatic cells, containing one or two complements of mouse chromosomes and a reduced complement of human investigated in several human-mouse hybrid cell lines. For chromosomes, have been examined for the presence of this analysis, advantage was taken of the possibility of re- mouse and human mitochondrial DNAs. For this analysis, solving mouse and human mit-DNAs on the basis of their advantage was taken of the fact that these two types of difference in buoyant density in CsCl gradients. Only mitochondrial DNA have a buoyant density difference in mouse-type mit-DNA was detected in all hybrid clones CsCl gradients of 0.008 g/cm'. In all the hybrid clones analyzed, which retained an average number of human examined, even in hybrids estimated conservatively to con- chromosomes estimated conservatively to vary from 5 tain an average of at least 23 residual human chromosomes to 23, only mitochondrial DNA of mouse character was per cell. detected. It seems likely that either repression of relevant human genes by the mouse genome or loss of human MATERIALS AND METHODS chromosomes is responsible for these results. If the latter explanation is true, since chromosome loss under the Cells and Media.
    [Show full text]
  • Chromosomal Disorders
    Understanding Genetic Tests and How They Are Used David Flannery,MD Medical Director American College of Medical Genetics and Genomics Starting Points • Genes are made of DNA and are carried on chromosomes • Genetic disorders are the result of alteration of genetic material • These changes may or may not be inherited Objectives • To explain what variety of genetic tests are now available • What these tests entail • What the different tests can detect • How to decide which test(s) is appropriate for a given clinical situation Types of Genetic Tests . Cytogenetic . (Chromosomes) . DNA . Metabolic . (Biochemical) Chromosome Test (Karyotype) How a Chromosome test is Performed Medicaldictionary.com Use of Karyotype http://medgen.genetics.utah.e du/photographs/diseases/high /peri001.jpg Karyotype Detects Various Chromosome Abnormalities • Aneuploidy- to many or to few chromosomes – Trisomy, Monosomy, etc. • Deletions – missing part of a chromosome – Partial monosomy • Duplications – extra parts of chromosomes – Partial trisomy • Translocations – Balanced or unbalanced Karyotyping has its Limits • Many deletions or duplications that are clinically significant are not visible on high-resolution karyotyping • These are called “microdeletions” or “microduplications” Microdeletions or microduplications are detected by FISH test • Fluorescence In situ Hybridization FISH fluorescent in situ hybridization: (FISH) A technique used to identify the presence of specific chromosomes or chromosomal regions through hybridization (attachment) of fluorescently-labeled DNA probes to denatured chromosomal DNA. Step 1. Preparation of probe. A probe is a fluorescently-labeled segment of DNA comlementary to a chromosomal region of interest. Step 2. Hybridization. Denatured chromosomes fixed on a microscope slide are exposed to the fluorescently-labeled probe. Hybridization (attachment) occurs between the probe and complementary (i.e., matching) chromosomal DNA.
    [Show full text]
  • Slavyana Staykova-Dis.Pdf
    МЕДИЦИНСКИ УНИВЕРСИТЕТ – СОФИЯ МЕДИЦИНСКИ ФАКУЛТЕТ КАТЕДРА ПО МЕДИЦИНСКА ГЕНЕТИКА СЛАВЯНА ЯНУШЕВА ЯНЕВА СТАЙКОВА ГЕНОМНИ НАРУШЕНИЯ В ПРЕДИМПЛАНТАЦИОННИ ЧОВЕШКИ ЕМБРИОНИ ДИСЕРТАЦИЯ за присъждане на образователна и научна степен “ДОКТОР” Област на висше образование: „Природни науки, математика и информатика” Шифър 4.3. Професионално направление: „Биологически науки” Научна специалност: „Генетика” НАУЧЕН РЪКОВОДИТЕЛ: ПРОФ. Д-Р САВИНА ХАДЖИДЕКОВА, ДМ София, 2020 1 „Технологии, които са налице при раждането ни, приемаме за обикновени; технологии, изобретени преди да навършим 35, смятаме за революционни и вълнуващи; технологии, създадени след 35-та ни годишнина, заклеймяваме като неестествени и неправилни.“ Дъглас Адамс 2 Благодаря: Благодаря на научния ми ръководител проф. Хаджидекова за помощта, насоките и възможността да реализирам този дисертационен труд. Благодаря на проф. Тончева за насърчаването, подкрепата и вярата, че мога да се справя с реализацията на дисертационния труд. Благодаря на д-р Станева за полезните съвети и напътствия и на Блага за получените нови знания. Благодаря на д-р Стаменов за възможността да работя с богат клиничен материал и съвременни технологии. Сърдечно благодаря на семейството ми – сина ми Симеон, съпруга ми Владимир, мама и тати, леля, баба и дядовците ми, както и на най-близките ми приятели – Ивайло, Надежда и Марта, за безрезервната им подкрепа, насърчаване и вяра в мен, без които нямаше да се справя. 3 СЪДЪРЖАНИЕ Използвани в текста съкращения 9 Списък на фигурите в текста 11 Списък на таблиците в текста 14 ВЪВЕДЕНИЕ 16 ЛИТЕРАТУРЕН ОБЗОР 18 I. Мястото на PGT в инвитро технологиите 18 II. Исторически план на методите за PGT 20 III. Етапи на PGT анализа 21 IV. Същност на инвитро технологиите 22 1.
    [Show full text]
  • Karyotype and Male Pre-Reductional Meiosis of the Sharpshooter Tapajosa Rubromarginata (Hemiptera: Cicadellidae)
    Symbol.dfont in 8/10 pts abcdefghijklmopqrstuvwxyz ABCDEFGHIJKLMNOPQRSTUVWXYZ Symbol.dfont in 10/12 pts abcdefghijklmopqrstuvwxyz ABCDEFGHIJKLMNOPQRSTUVWXYZ Symbol.dfont in 12/14 pts abcdefghijklmopqrstuvwxyz ABCDEFGHIJKLMNOPQRSTUVWXYZ Karyotype and male pre-reductional meiosis of the sharpshooter Tapajosa rubromarginata (Hemiptera: Cicadellidae) Graciela R. de Bigliardo1,2, Eduardo Gabriel Virla3, Sara Caro1 & Santiago Murillo Dasso1 1. Facultad de Ciencias Naturales e IML. U.N.T. Miguel Lillo 205. San Miguel de Tucumán (4000), Tucumán, Argentina; [email protected] Karyotype and male pre-reductional meiosis of the 2. Fundación Miguel Lillo. Miguel Lillo 251. San Miguel de Tucumán (4000), Tucumán, Argentina; sharpshooter Tapajosa rubromarginata (Hemiptera: [email protected] Cicadellidae) 3. PROIMI-Biotechnology, Biocontrol Div. Av. Belgrano & Pje. Caseros. San Miguel de Tucumán (4000), Tucumán, Graciela R. de Bigliardo, Eduardo Gabriel Virla, Sara Caro & Argentina; [email protected] Santiago Murillo Dasso Received 12-IV-2010. Corrected 17-IX-2010. Accepted 19-X-2010. [email protected]; [email protected]; evirla@hotmail. com Abstract: Cicadellidae in one of the best represented families in the Neotropical Region, and the tribe Proconiini comprises most of the xylem-feeding insects, including the majority of the known vectors of xylem-born phy- topathogenic organisms. The cytogenetics of the Proconiini remains largely unexplored. We studied males of Tapajosa rubromarginata (Signoret) collected at El Manantial (Tucumán, Argentina) on native spontaneous vegetation where Sorghum halepense predominates. Conventional cytogenetic techniques were used in order to describe the karyotype and male meiosis of this sharpshooter. T. rubromarginata has a male karyological formula of 2n=21 and a sex chromosome system XO:XX ( : ). The chromosomes do not have a primary constriction, being holokinetic and the meiosis is pre-reductional, showing similar behavior both for autosomes and sex chromosomes during anaphase I.
    [Show full text]
  • Is Karyotyping and Y Chromosome Microdeletion Study Necessary in Men Candidate for ICSI?
    Iranian Journal of Reproductive Medicine Vol.8. No.4. pp: 173-178, Autumn 2010 Is karyotyping and Y chromosome microdeletion study necessary in men candidate for ICSI? Mohammad Reza Nowroozi1 M.D., Keivan Radkhah1 M.D., Alireza Ranjbaran1 M.D., Saeed Reza Ghaffari2 Ph.D., Mohammad Ali Sedighi Gilani3 M.D., Hamid Gourabi4 Ph.D. 1 Urology Research Center, Tehran University of Medical Sciences, Tehran, Iran. 2 Department of Genetics, Tehran University of Medical Sciences, Tehran, Iran. 3 Department of Urology, Rooyan Institute, Tehran University of Medical Sciences, Tehran, Iran. 4 Department of Genetics, Rooyan Institute, Tehran, Iran. Received: 29 July 2009; accepted: 14 March 2010 Abstract Background: The sperm count and function may be affected by karyotype abnormalities or microdeletion in Y chromosome. These genetic abnormalities can probably transmit to the children. Objective: In this study, we tried to determine the frequency of karyotype abnormalities and Y chromosome microdeletions in severe oligospermic or azoospermic men who fathered sons by ICSI. Materials and Methods: This study comprised of fathers who had at least a son with ICSI due to severe oligospermia or azoospermia. General examinations were done and blood sample were obtained for karyotype and Y chromosome studies. Results: The total of 60 fathers was evaluated along with their 70 sons. The mean duration of infertility was 8.7 years and the sons were 2.4 years in average at the time of examination. The mean age of neonates at the time of delivery was 33 weeks; 42.9% were delivered prematurely; and 40.5% of them were twins. 8.6% of the sons had hypospadiasis and 7.1% had UDT.
    [Show full text]
  • Molecular Cytogenetics: Karyotype Evolution, Phylogenomics and Future Prospects
    Heredity (2012) 108, 1–3 & 2012 Macmillan Publishers Limited All rights reserved 0018-067X/12 www.nature.com/hdy EDITORIAL Molecular cytogenetics: karyotype evolution, phylogenomics and future prospects Heredity (2012) 108, 1–3; doi:10.1038/hdy.2011.117 Cytogenetics has matured into a multidisciplinary science that draws intrachromosomal changes such as inversions and duplications as well heavily on theoretical and technical advances associated with devel- as small translocated segments that are beyond the resolution of FISH opments in molecular biology, flow-cytometery, bioinformatics (5–10 Mb; Schrock et al., 1996). Refinements, designed to improve the and phylogenetics. As a result, it now provides crucial analytical resolution of conserved syntenic blocks identified using whole- approaches for countless questions in evolutionary biology. Further- chromosome paints from conserved genomes, include the use of more, its increasing reliance on sequence data to confirm and refine ordered subchromosomal markers such as BACs, and/or of highly syntenies, identify breakpoints, neocentromeres and other chromosomal fragmented genomes as painting probes. Nie et al. (2012) demonstrate features has irrevocably cemented the association between molecular this in their study of chromosomal evolution in Carnivora. Using cytogenetics, karyotypic change and genomics—aspects that form the chromosome-specific paints derived from the domestic dog (that has a focus of this Special Issue. high chromosome number, 2n¼78, and one of the most rearranged The historic journey of the field from the use of sectioned or squash karyotypes in mammals) they present comparative homology maps preparations of tissues in situ through the discovery of a hypotonic from the species representative of six different families.
    [Show full text]
  • Centromere-Mediated Chromosome Break Drives Karyotype Evolution in Closely Related 2 Malassezia Species
    bioRxiv preprint doi: https://doi.org/10.1101/533794; this version posted January 29, 2019. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. 1 Centromere-mediated chromosome break drives karyotype evolution in closely related 2 Malassezia species 3 4 Sundar Ram Sankaranarayanan1, Giuseppe Ianiri2, Md. Hashim Reza1, Bhagya C. Thimmappa1,#, Promit 5 Ganguly1, Marco A. Coelho2, Sheng Sun2, Rahul Siddharthan3, Christian Tellgren-Roth4, Thomas L 6 Dawson Jr.5,6, Joseph Heitman2,* and Kaustuv Sanyal1,* 7 8 1Molecular Mycology Laboratory, Molecular Biology and Genetics Unit, Jawaharlal Nehru Center for 9 Advanced Scientific Research, Jakkur P.O, Bengaluru- 560064. 10 2Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 11 27710, USA 12 3The Institute of Mathematical Sciences/HBNI, Taramani, Chennai 600 113, India 13 4National Genomics Infrastructure, Science for Life Laboratory, Department of Immunology, Genetics 14 and Pathology, Uppsala University, 75108 Uppsala, Sweden 15 5Skin Research Institute Singapore, Agency for Science, Technology and Research (A*STAR), 138648, 16 Singapore 17 6Medical University of South Carolina, School of Pharmacy, Department of Drug Discovery, 29425, USA 18 # Present address: Department of Biochemistry, Robert-Cedergren Centre for Bioinformatics and 19 Genomics, University of Montreal, 2900 Edouard-Montpetit, Montreal, H3T1J4, QC, Canada 20 E-mail address of authors
    [Show full text]
  • Trisomy 18 – Edwards Syndrome
    Fact sheet 38 TRISOMY 18 – EDWARDS SYNDROME This fact sheet talks about the chromosome condition trisomy 18 and includes the symptoms, cause, treatment and available testing. • Kidney differences and structural heart changes at birth such as an abnormal opening in the IN SUMMARY partition dividing the lower chambers of the heart • Trisomy 18 is a chromosome condition • Heart differences and respiratory difficulties may also known as Edwards syndrome lead to potential life-threatening complications • Babies with trisomy 18 usually during infancy or childhood. have distinctive features, severe learning disability and other physical developmental concerns • Trisomy 18 is caused by having an extra In each cell of the body, except the egg and copy of chromosome number 18. sperm cells, there are 46 chromosomes. Chromosomes come in pairs and each pair varies in size. There are therefore 23 pairs of WHAT IS TRISOMY 18? chromosomes, one of each pair being inherited from each parent. Trisomy 18 is also known as Edwards syndrome. It is a condition which is considered very serious and • There are 22 numbered chromosomes most babies with trisomy 18 do not survive to birth. from roughly the largest to the smallest: i.e. 1-22. These are called autosomes Some general signs and symptoms include: • There are also two sex chromosomes, called X and Y. • Developmental delays and severe learning disability In females, cells in the body typically have 46 chromosomes (44 autosomes plus • Slow to grow and gain weight and severe two copies of the X chromosome). They feeding difficulties are said to have a 46,XX karyotype.
    [Show full text]