Chromosome Cheatsheet

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1 2 3 4 5 6 - Gaucher -Von Hippel Lindau (VHL) - Huntington (CAG) - APC (FAP) (5q-) Hemochromatosis - L-myc gene (involved in (3p26) - Achondroplasia (FGFR3 - Cri-Du-Chat (5p-) HFE gene (C282Y, small cell carcinoma) gene) H63D) (example of - Presenilin 2 (early alz.) APC = ”Colon” = 5 Linkage Disequilibrium) letters = chromosome 5! 7 8 9 10 11 12 - Cystic Fibrosis (CFTR) - C-myc gene (Burkitt's) - Abl (bcr-abl) (9q34.1) - ATM (11q22.3) - Williams syn. (7q-, elastin, - TSC1 (Hamartin) (9q34) - BCL-1 (cyclin D) 2+ “friendly elves ”, ↑ Ca ) - P16 tumor suppressor - Wilms’ tumor (deletion gene (Melanoma) of tumor suppressor - JAK2 (PV, ET, MMM) gene WT1) - Friedreich's Ataxia (GAA) - Niemann Pick (sphingomyelinase) - β Globin Chain (β-Thal) 13 14 15 16 17 18 - Rb Gene (retino, osteo) - Presenilin 1 (early alz) - Tay-Sachs - TSC2 (tuberin) - P53 (Bax→ bcl-2) - bcl-2 (apoptosis) - BRCA-2 (Hexosaminidase A) - PCKD1 (polycystin1) - NF1 (Von - Edwards Trisomy - Patau Trisomy - Marfan (FBN1) - α Globin Chain (α-Thal) Recklinghausen) - DCC (colon) - Wilson's disease (ATP7b) - Prader-Willi & Angelman - BRCA-1 - DPC4 (pancreatic) (imprinting) Angelina Jolie = 13 letters = Polycystic kidney = 16 Von Recklinghausen = chromosome 13! (Lets pretend letters = chromosome 16! 17 letters = chromosome she’s BRCA-2, not BRCA-1) Also ‘alpha globin chain’ 17! 19 20 21 22 23 - Familial Hyper - Down's Trisomy - NF2 (Merlin protein) Cholesterolemia (LDL - β-APP (very early alz.) - EWS (Ewing’s sarc.) receptor mutation) - SOD1 (altered in ALS) - DiGeorge syn. (11q-); - ApoE4 / 2 (Late alz. / alz) Velocardiofacial syn. (sporadic, not familial) Quantitative sexual Translocations X chromosome Y diseases - Menkes Syndrome (ATP7A copper Efflux Protein) - Klinefelter Philadelphia (Bcr-Abl over expression. P210KD Tyrosine 9:22 - Fragile X Syndrome (CGG on gene FMR-1) Syndrome XXY Kinase. CML→ better prognosis; ALL → worst prognosis) - Bruton's (BTK gene) Agammaglobulinemia (Barr Body) - Lesch-Nyhan (HPRT1) - Turner Syndrome 8:14 Burkitt's Lymphoma (C-myc gene over expression) - Wiskott Aldrich (WASP Protein) XO (Shox Gene) 11:14 Mantle Cell Lymphoma (Bcl-1 gene Aka Cyclin D) - SCID (IL-2 receptor mutation) 14:18 Follicular NHL (Bcl-2) - Duchenne MD (Dystrophin) - Alport’s (COL4A5) 15:17 AML M3 (Auer Rods, DIC) - Hemophilia A&B (F8&9) 11:22 Ewing's Sarcoma (“Patrick Ewing doubles your points”) - Fabry’s dz (telangiectasia & skin rashes, ↑ BUN) 12:21 Provides better prognosis in ALL - Hunter’s Syndrome (corneal clouding, pebbly skin) - G6PD deficiency - Ocular albinism - OTC deficiency (other urea cycle disease is AR) Taken and modified from www.Baronerocks.com - Hypophosphatemic rickets (X-linked dominant) .

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Viewed Under 23 (B) Or 203 (C) fi M M Male Cko Mice, and Largely Unaffected Magni Cation; Scale Bars, 500 M (B) and 50 M (C)
BRIEF COMMUNICATION www.jasn.org Renal Fanconi Syndrome and Hypophosphatemic Rickets in the Absence of Xenotropic and Polytropic Retroviral Receptor in the Nephron Camille Ansermet,* Matthias B. Moor,* Gabriel Centeno,* Muriel Auberson,* † † ‡ Dorothy Zhang Hu, Roland Baron, Svetlana Nikolaeva,* Barbara Haenzi,* | Natalya Katanaeva,* Ivan Gautschi,* Vladimir Katanaev,*§ Samuel Rotman, Robert Koesters,¶ †† Laurent Schild,* Sylvain Pradervand,** Olivier Bonny,* and Dmitri Firsov* BRIEF COMMUNICATION *Department of Pharmacology and Toxicology and **Genomic Technologies Facility, University of Lausanne, Lausanne, Switzerland; †Department of Oral Medicine, Infection, and Immunity, Harvard School of Dental Medicine, Boston, Massachusetts; ‡Institute of Evolutionary Physiology and Biochemistry, St. Petersburg, Russia; §School of Biomedicine, Far Eastern Federal University, Vladivostok, Russia; |Services of Pathology and ††Nephrology, Department of Medicine, University Hospital of Lausanne, Lausanne, Switzerland; and ¶Université Pierre et Marie Curie, Paris, France ABSTRACT Tight control of extracellular and intracellular inorganic phosphate (Pi) levels is crit- leaves.4 Most recently, Legati et al. have ical to most biochemical and physiologic processes. Urinary Pi is freely filtered at the shown an association between genetic kidney glomerulus and is reabsorbed in the renal tubule by the action of the apical polymorphisms in Xpr1 and primary fa- sodium-dependent phosphate transporters, NaPi-IIa/NaPi-IIc/Pit2. However, the milial brain calcification disorder.5 How- molecular identity of the protein(s) participating in the basolateral Pi efflux remains ever, the role of XPR1 in the maintenance unknown. Evidence has suggested that xenotropic and polytropic retroviral recep- of Pi homeostasis remains unknown. Here, tor 1 (XPR1) might be involved in this process. Here, we show that conditional in- we addressed this issue in mice deficient for activation of Xpr1 in the renal tubule in mice resulted in impaired renal Pi Xpr1 in the nephron.
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9092 Medical Single
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