Human Molecular Genetics, Vol 7, 1407-1410, Copyright © 1998 by Oxford University Press
C Heaney, H Shalev, K Elbedour, R Carmi, JB Staack, VC Sheffield and DR Beier
Autosomal recessive osteopetrosis is a rare congenital disorder
characterized by the development of abnormally dense bones, acrocephaly,
severe anemia, hepatosplenomegaly and progressive deafness and blindness.
The clinical course is rapidly progressive and is lethal at a very young
age in the absence of a bone marrow transplant. The failure to remodel
developing bone that is the basis of the disease process is most likely due
to a dysfunction of the bone resorptive cell, the osteoclast. This
phenotype is similar to that of the murine mutation osteosclerosis (oc),
which is localized to proximal mouse chromosome 19. Given the similarity
between the human and murine phenotypes, we tested whether human
osteopetrosis maps to a region of conserved synteny. Microsatellite markers
in the region of 11q12-13 were found to be linked to osteopetrosis in two
consanguineous Bedouin kindreds. Recombination events were used to define
the disease interval to an approximately 14 cM region between D11S1983 and
D11S2371. A maximum LOD score of 7. 94 was obtained with D11S449 at
straight theta = 0.
ARTICLES
Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation
Department of Pediatrics and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA, USA.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  L. M. Havill, M. C. Mahaney, L. A. Cox, P. A. Morin, G. Joslyn, and J. Rogers A Quantitative Trait Locus for Normal Variation in Forearm Bone Mineral Density in Pedigreed Baboons Maps to the Ortholog of Human Chromosome 11q J. Clin. Endocrinol. Metab., June 1, 2005; 90(6): 3638 - 3645. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. Ohtsuki, T. Kikkawa, S. Mori, S. Hori, H. Takanaga, M. Otagiri, and T. Terasaki Mouse Reduced in Osteosclerosis Transporter Functions as an Organic Anion Transporter 3 and Is Localized at Abluminal Membrane of Blood-Brain Barrier J. Pharmacol. Exp. Ther., June 1, 2004; 309(3): 1273 - 1281. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. Carn, D. L. Koller, M. Peacock, S. L. Hui, W. E. Evans, P. M. Conneally, C. C. Johnston Jr., T. Foroud, and M. J. Econs Sibling Pair Linkage and Association Studies between Peak Bone Mineral Density and the Gene Locus for the Osteoclast-Specific Subunit (OC116) of the Vacuolar Proton Pump on Chromosome 11p12-13 J. Clin. Endocrinol. Metab., August 1, 2002; 87(8): 3819 - 3824. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. H. Sweet, D. S. Miller, J. B. Pritchard, Y. Fujiwara, D. R. Beier, and S. K. Nigam Impaired Organic Anion Transport in Kidney and Choroid Plexus of Organic Anion Transporter 3 (Oat3 (Slc22a8)) Knockout Mice J. Biol. Chem., July 19, 2002; 277(30): 26934 - 26943. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. D. Hockett, S. C. Kirkwood, B. H. Mitlak, and W. H. Dere Pharmacogenomics in Endocrinology J. Clin. Endocrinol. Metab., June 1, 2002; 87(6): 2495 - 2499. [Full Text] [PDF]
|
|
|
|
 |
|
 L. M. Boyden, J. Mao, J. Belsky, L. Mitzner, A. Farhi, M. A. Mitnick, D. Wu, K. Insogna, and R. P. Lifton High Bone Density Due to a Mutation in LDL-Receptor-Related Protein 5 N. Engl. J. Med., May 16, 2002; 346(20): 1513 - 1521. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. H. Sweet, K. T. Bush, and S. K. Nigam The organic anion transporter family: from physiology to ontogeny and the clinic Am J Physiol Renal Physiol, August 1, 2001; 281(2): F197 - F205. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. L. Koller, M. J. Econs, P. A. Morin, J. C. Christian, S. L. Hui, P. Parry, M. E. Curran, L. A. Rodriguez, P. M. Conneally, G. Joslyn, et al. Genome Screen for QTLs Contributing to Normal Variation in Bone Mineral Density and Osteoporosis J. Clin. Endocrinol. Metab., September 1, 2000; 85(9): 3116 - 3120. [Abstract] [Full Text]
|
|
|
|
 |
|
 U. Kornak, A. Schulz, W. Friedrich, S. Uhlhaas, B. Kremens, T. Voit, C. Hasan, U. Bode, T. J. Jentsch, and C. Kubisch Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis Hum. Mol. Genet., August 12, 2000; 9(13): 2059 - 2063. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. A. M. H. Van Aubel, R. Masereeuw, and F. G. M. Russel Molecular pharmacology of renal organic anion transporters Am J Physiol Renal Physiol, August 1, 2000; 279(2): F216 - F232. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. Janssens, R. Gershoni-Baruch, E. Van Hul, R. Brik, N. Guañabens, N. Migone, L. A Verbruggen, S. H Ralston, M. Bonduelle, L. Van Maldergem, et al. Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13 J. Med. Genet., April 1, 2000; 37(4): 245 - 249. [Abstract] [Full Text]
|
|
|
|
|
|
H. Kusuhara, T. Sekine, N. Utsunomiya-Tate, M. Tsuda, R. Kojima, S. H. Cha, Y. Sugiyama, Y. Kanai, and H. Endou Molecular Cloning and Characterization of a New Multispecific Organic Anion Transporter from Rat Brain J. Biol. Chem., May 7, 1999; 274(19): 13675 - 13680. [Abstract] [Full Text] [PDF]
|
|