메뉴 건너뛰기




Volumn 84, Issue 6, 2004, Pages 1060-1070

X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase

Author keywords

Adenosinetriphosphatase; Guanine nucleotide exchange factor; High mobility group box protein; Phylogeny; snRNA

Indexed keywords

ADENOSINE TRIPHOSPHATASE; COMPLEMENTARY DNA; SMALL NUCLEAR RNA;

EID: 7944222803     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ygeno.2004.08.003     Document Type: Article
Times cited : (15)

References (41)
  • 1
    • 0025332731 scopus 로고
    • Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies
    • R.V. Thakker, K.E. Davies, M.P. Whyte, C. Wooding, and J.L. O'Riordan Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies J. Clin. Invest. 86 1990 40 45
    • (1990) J. Clin. Invest. , vol.86 , pp. 40-45
    • Thakker, R.V.1    Davies, K.E.2    Whyte, M.P.3    Wooding, C.4    O'Riordan, J.L.5
  • 2
    • 0031733710 scopus 로고    scopus 로고
    • Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27
    • D. Trump Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27 J. Med. Genet. 35 1998 905 909
    • (1998) J. Med. Genet. , vol.35 , pp. 905-909
    • Trump, D.1
  • 3
    • 0010399599 scopus 로고
    • True idiopathic hypoparathyroidism as a sex linked recessive trait
    • V.H. Peden True idiopathic hypoparathyroidism as a sex linked recessive trait Am. J. Hum. Genet. 12 1960 322 337
    • (1960) Am. J. Hum. Genet. , vol.12 , pp. 322-337
    • Peden, V.H.1
  • 4
    • 0019868775 scopus 로고
    • Idiopathic hypoparathyroidism presenting with seizures during infancy: X-linked recessive inheritance in a large Missouri kindred
    • M.P. Whyte, and V.V. Weldon Idiopathic hypoparathyroidism presenting with seizures during infancy: X-linked recessive inheritance in a large Missouri kindred J. Pediatr. 99 1981 608 611
    • (1981) J. Pediatr. , vol.99 , pp. 608-611
    • Whyte, M.P.1    Weldon, V.V.2
  • 5
    • 0022811033 scopus 로고
    • Absence of parathyroid tissue in sex-linked recessive hypoparathyroidism
    • M.P. Whyte, G.S. Kim, and M. Kosanovich Absence of parathyroid tissue in sex-linked recessive hypoparathyroidism J. Pediatr. 109 1986 915
    • (1986) J. Pediatr. , vol.109 , pp. 915
    • Whyte, M.P.1    Kim, G.S.2    Kosanovich, M.3
  • 6
    • 0032030895 scopus 로고    scopus 로고
    • Hox group 3 paralogs regulate the development and migration of the thymus, thyroid, and parathyroid glands
    • N.R. Manley, and M.R. Capecchi Hox group 3 paralogs regulate the development and migration of the thymus, thyroid, and parathyroid glands Dev. Biol. 195 1998 1 15
    • (1998) Dev. Biol. , vol.195 , pp. 1-15
    • Manley, N.R.1    Capecchi, M.R.2
  • 8
    • 0030894094 scopus 로고    scopus 로고
    • Identification of a U7snRNA homologue mapping to the human Xq27.1 region, between the DXS1232 and DXS119 loci
    • M. Mostardini Identification of a U7snRNA homologue mapping to the human Xq27.1 region, between the DXS1232 and DXS119 loci Gene 187 1997 221 224
    • (1997) Gene , vol.187 , pp. 221-224
    • Mostardini, M.1
  • 9
    • 0024062724 scopus 로고
    • Molecular cloning and characterization of the human dbl proto-oncogene: Evidence that its overexpression is sufficient to transform NIH/3T3 cells
    • D. Ron, S.R. Tronick, S.A. Aaronson, and A. Eva Molecular cloning and characterization of the human dbl proto-oncogene: evidence that its overexpression is sufficient to transform NIH/3T3 cells EMBO J. 7 1988 2465 2473
    • (1988) EMBO J. , vol.7 , pp. 2465-2473
    • Ron, D.1    Tronick, S.R.2    Aaronson, S.A.3    Eva, A.4
  • 10
    • 0344326301 scopus 로고    scopus 로고
    • Transcription map of Xq27: Candidates for several X-linked diseases
    • I. Zucchi Transcription map of Xq27: candidates for several X-linked diseases Genomics 57 1999 209 218
    • (1999) Genomics , vol.57 , pp. 209-218
    • Zucchi, I.1
  • 11
    • 0032779254 scopus 로고    scopus 로고
    • Comparative expression of the mouse Sox1, Sox2 and Sox3 genes from pre-gastrulation to early somite stages
    • H.B. Wood, and V. Episkopou Comparative expression of the mouse Sox1, Sox2 and Sox3 genes from pre-gastrulation to early somite stages Mech. Dev. 86 1999 197 201
    • (1999) Mech. Dev. , vol.86 , pp. 197-201
    • Wood, H.B.1    Episkopou, V.2
  • 12
    • 0030039291 scopus 로고    scopus 로고
    • A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2
    • J. Collignon A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2 Development 122 1996 509 520
    • (1996) Development , vol.122 , pp. 509-520
    • Collignon, J.1
  • 13
    • 0035881539 scopus 로고    scopus 로고
    • Sox3 expression defines a common primordium for the epibranchial placodes in chick
    • Y. Ishii, M. Abu-Elmagd, and P.J. Scotting Sox3 expression defines a common primordium for the epibranchial placodes in chick Dev. Biol. 236 2001 344 353
    • (2001) Dev. Biol. , vol.236 , pp. 344-353
    • Ishii, Y.1    Abu-Elmagd, M.2    Scotting, P.J.3
  • 14
    • 0018838337 scopus 로고
    • Development of thymus, parathyroids, and ultimo-branchial bodies in NMRI and nude mice
    • A.C. Cordier, and S.M. Haumont Development of thymus, parathyroids, and ultimo-branchial bodies in NMRI and nude mice Am. J. Anat. 157 1980 227 263
    • (1980) Am. J. Anat. , vol.157 , pp. 227-263
    • Cordier, A.C.1    Haumont, S.M.2
  • 15
    • 1442360429 scopus 로고    scopus 로고
    • SOX3 is required during the formation of the hypothalamo-pituitary axis
    • K. Rizzoti SOX3 is required during the formation of the hypothalamo-pituitary axis Nat. Genet. 36 2004 247 255
    • (2004) Nat. Genet. , vol.36 , pp. 247-255
    • Rizzoti, K.1
  • 16
    • 0036913192 scopus 로고    scopus 로고
    • Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency
    • F. Laumonnier Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency Am. J. Hum. Genet. 71 2002 1450 1455
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 1450-1455
    • Laumonnier, F.1
  • 17
    • 0028321764 scopus 로고
    • The site of 3′ end formation of histone messenger RNA is a fixed distance from the downstream element recognized by the U7 snRNP
    • E.C. Scharl, and J.A. Steitz The site of 3′ end formation of histone messenger RNA is a fixed distance from the downstream element recognized by the U7 snRNP EMBO J. 13 1994 2432 2440
    • (1994) EMBO J. , vol.13 , pp. 2432-2440
    • Scharl, E.C.1    Steitz, J.A.2
  • 18
    • 0035668525 scopus 로고    scopus 로고
    • Dbl family guanine nucleotide exchange factors
    • Y. Zheng Dbl family guanine nucleotide exchange factors Trends Biochem. Sci. 26 2001 724 732
    • (2001) Trends Biochem. Sci. , vol.26 , pp. 724-732
    • Zheng, Y.1
  • 19
    • 0036239645 scopus 로고    scopus 로고
    • Defective dendrite elongation but normal fertility in mice lacking the Rho-like GTPase activator Dbl
    • E. Hirsch Defective dendrite elongation but normal fertility in mice lacking the Rho-like GTPase activator Dbl Mol. Cell. Biol. 22 2002 3140 3148
    • (2002) Mol. Cell. Biol. , vol.22 , pp. 3140-3148
    • Hirsch, E.1
  • 20
    • 0028288256 scopus 로고
    • Isolation of expressed sequences encoded by the human Xq terminal portion using microclone probes generated by laser microdissection
    • H. Yokoi Isolation of expressed sequences encoded by the human Xq terminal portion using microclone probes generated by laser microdissection Genomics 20 1994 404 411
    • (1994) Genomics , vol.20 , pp. 404-411
    • Yokoi, H.1
  • 21
    • 0031953722 scopus 로고    scopus 로고
    • Multiple members of a third subfamily of P-type ATPases identified by genomic sequences and ESTs
    • M.S. Halleck Multiple members of a third subfamily of P-type ATPases identified by genomic sequences and ESTs Genome Res. 8 1998 354 361
    • (1998) Genome Res. , vol.8 , pp. 354-361
    • Halleck, M.S.1
  • 22
    • 0033547277 scopus 로고    scopus 로고
    • Differential expression of putative transbilayer amphipath transporters
    • M.S. Halleck Differential expression of putative transbilayer amphipath transporters Physiol. Genom. 1 1999 139 150
    • (1999) Physiol. Genom. , vol.1 , pp. 139-150
    • Halleck, M.S.1
  • 23
    • 0034326362 scopus 로고    scopus 로고
    • Analysis of canonical and non-canonical splice sites in mammalian genomes
    • M. Burset, I.A. Seledtsov, and V.V. Solovyev Analysis of canonical and non-canonical splice sites in mammalian genomes Nucleic Acids Res. 28 2000 4364 4375
    • (2000) Nucleic Acids Res. , vol.28 , pp. 4364-4375
    • Burset, M.1    Seledtsov, I.A.2    Solovyev, V.V.3
  • 24
    • 0034713881 scopus 로고    scopus 로고
    • Human dbl proto-oncogene in 85 kb of xq26, and determination of the transcription initiation site
    • G. Palmieri Human dbl proto-oncogene in 85 kb of xq26, and determination of the transcription initiation site Gene 253 2000 107 115
    • (2000) Gene , vol.253 , pp. 107-115
    • Palmieri, G.1
  • 25
    • 0021435842 scopus 로고
    • The gene structure of human anti-haemophilic factor IX
    • D.S. Anson The gene structure of human anti-haemophilic factor IX EMBO J. 3 1984 1053 1060
    • (1984) EMBO J. , vol.3 , pp. 1053-1060
    • Anson, D.S.1
  • 27
    • 0032482253 scopus 로고    scopus 로고
    • Characterization of the human homologue of the yeast spc98p and its association with gamma-tubulin
    • A.M. Tassin, C. Celati, M. Moudjou, and M. Bornens Characterization of the human homologue of the yeast spc98p and its association with gamma-tubulin J. Cell Biol. 141 1998 689 701
    • (1998) J. Cell Biol. , vol.141 , pp. 689-701
    • Tassin, A.M.1    Celati, C.2    Moudjou, M.3    Bornens, M.4
  • 28
    • 0034669139 scopus 로고    scopus 로고
    • Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators
    • J. Bowles, G. Schepers, and P. Koopman Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators Dev. Biol. 227 2000 239 255
    • (2000) Dev. Biol. , vol.227 , pp. 239-255
    • Bowles, J.1    Schepers, G.2    Koopman, P.3
  • 29
    • 10144256536 scopus 로고    scopus 로고
    • A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium_sensing receptor
    • S.H. Pearce A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium_sensing receptor N. Engl. J. Med. 335 1996 1115 1122
    • (1996) N. Engl. J. Med. , vol.335 , pp. 1115-1122
    • Pearce, S.H.1
  • 30
    • 0036212222 scopus 로고    scopus 로고
    • Increased gene dosage at Xq26-q27 is associated with X-linked hypopituitarism
    • N.M. Solomon Increased gene dosage at Xq26-q27 is associated with X-linked hypopituitarism Genomics 79 2002 553 559
    • (2002) Genomics , vol.79 , pp. 553-559
    • Solomon, N.M.1
  • 31
    • 0029940235 scopus 로고    scopus 로고
    • Structural organization, ion transport, and energy transduction of P-type ATPases
    • J.V. Moller, B. Juul, and M. le Maire Structural organization, ion transport, and energy transduction of P-type ATPases Biochim. Biophys. Acta 1286 1996 1 51
    • (1996) Biochim. Biophys. Acta , vol.1286 , pp. 1-51
    • Moller, J.V.1    Juul, B.2    Le Maire, M.3
  • 32
    • 0031907132 scopus 로고    scopus 로고
    • A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis
    • L.N. Bull A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis Nat. Genet. 18 1998 219 224
    • (1998) Nat. Genet. , vol.18 , pp. 219-224
    • Bull, L.N.1
  • 33
    • 0025375331 scopus 로고
    • Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27 I
    • Y. Shiloh Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27 I Am. J. Hum. Genet. 47 1990 20 27
    • (1990) Am. J. Hum. Genet. , vol.47 , pp. 20-27
    • Shiloh, Y.1
  • 34
    • 0030049099 scopus 로고    scopus 로고
    • Refined genetic mapping of X-linked thoracoabdominal syndrome
    • R. Parvari Refined genetic mapping of X-linked thoracoabdominal syndrome Am. J. Med. Genet. 61 1996 401 402
    • (1996) Am. J. Med. Genet. , vol.61 , pp. 401-402
    • Parvari, R.1
  • 35
    • 0028788756 scopus 로고
    • Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis)
    • S.E. Fisher Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis) Genomics 29 1995 598 606
    • (1995) Genomics , vol.29 , pp. 598-606
    • Fisher, S.E.1
  • 36
    • 13344286321 scopus 로고    scopus 로고
    • A common molecular basis for three inherited kidney stone diseases
    • S.E. Lloyd A common molecular basis for three inherited kidney stone diseases Nature 379 1996 445 449
    • (1996) Nature , vol.379 , pp. 445-449
    • Lloyd, S.E.1
  • 37
    • 0030983729 scopus 로고    scopus 로고
    • Exclusion of ZFM1 as a candidate gene for multiple endocrine neoplasia type 1 (MEN1)
    • S.E. Lloyd, J.T. Pang, S.H. Pearce, S.E. Leigh, and R.V. Thakker Exclusion of ZFM1 as a candidate gene for multiple endocrine neoplasia type 1 (MEN1) Hum. Genet. 99 1997 585 589
    • (1997) Hum. Genet. , vol.99 , pp. 585-589
    • Lloyd, S.E.1    Pang, J.T.2    Pearce, S.H.3    Leigh, S.E.4    Thakker, R.V.5
  • 38
    • 0042121237 scopus 로고    scopus 로고
    • Multiple sequence alignment with the Clustal series of programs
    • R. Chenna Multiple sequence alignment with the Clustal series of programs Nucleic Acids Res. 31 2003 3497 3500
    • (2003) Nucleic Acids Res. , vol.31 , pp. 3497-3500
    • Chenna, R.1
  • 39
    • 0036435982 scopus 로고    scopus 로고
    • Alternative splicing variants of the human DBL (MCF-2) proto-oncogene
    • K. Komai Alternative splicing variants of the human DBL (MCF-2) proto-oncogene Biochem. Biophys. Res. Commun. 299 2002 455 458
    • (2002) Biochem. Biophys. Res. Commun. , vol.299 , pp. 455-458
    • Komai, K.1
  • 40
    • 0033864506 scopus 로고    scopus 로고
    • 2+-transporting ATPases
    • 2+-transporting ATPases Eur. J. Biochem. 267 2000 5284 5290
    • (2000) Eur. J. Biochem. , vol.267 , pp. 5284-5290
    • Shull, G.E.1
  • 41
    • 0029992825 scopus 로고    scopus 로고
    • A subfamily of P-type ATPases with aminophospholipid transporting activity
    • X. Tang, M.S. Halleck, R.A. Schlegel, and P. Williamson A subfamily of P-type ATPases with aminophospholipid transporting activity Science 272 1996 1495 1497
    • (1996) Science , vol.272 , pp. 1495-1497
    • Tang, X.1    Halleck, M.S.2    Schlegel, R.A.3    Williamson, P.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.