Sixty-nine kilobases of contiguous human genomic sequence containing the α-galactosidase A and Bruton's tyrosine kinase loci

J. C. Oeltjen, X. Liu, J. Lu, R. C. Allen, D. Muzny, J. W. Belmont, R. A. Gibbs

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

Several disease loci have been mapped to the Xq21.3-Xq22 region of the human X Chromosome (Chr) including X-linked agammaglobulinemia (XLA), Fabry disease, Alport syndrome, and Pelizaeus Merzbacher disease. Upon cloning of the XLA gene, Bruton's tyrosine kinase (btk), both Fabry disease and XLA were mapped within the same 50- to 70-kb interval. In order to investigate the genomic organization of the region surrounding btk and the Fabry disease gene, α-galactosidase A (gla), we constructed a 6-cosmid contig spanning the region from 5′ of gla to 3′ of btk. Two of these cosmids spanning most of the coding sequence and the upstream region of btk and gla, U237D10 and U230D1, were sequenced by a random shotgun strategy combined with automated sequencing, resulting in 69 kb of contiguous genomic sequence. Sequencing of U237D10 showed btk to be comprised of 19 exons spanning over 35 kb. Sequencing of U230D1 showed that the 3′ end of gla is 9 kb from the 5′ end of btk and also demonstrated the presence of two additional genes in the region immediately 5′ to btk. The surprisingly high gene density is similar to that seen previously only in the human major histocompatibility locus.

Original languageEnglish
Pages (from-to)334-338
Number of pages5
JournalMammalian Genome
Volume6
Issue number5
DOIs
StatePublished - May 1 1995

Fingerprint

Galactosidases
Fabry Disease
Cosmids
Pelizaeus-Merzbacher Disease
Chromosomes, Human, X
Hereditary Nephritis
Genes
X-Linked Genes
Histocompatibility
Firearms
Agammaglobulinaemia tyrosine kinase
Organism Cloning
Exons

ASJC Scopus subject areas

  • Genetics

Cite this

Sixty-nine kilobases of contiguous human genomic sequence containing the α-galactosidase A and Bruton's tyrosine kinase loci. / Oeltjen, J. C.; Liu, X.; Lu, J.; Allen, R. C.; Muzny, D.; Belmont, J. W.; Gibbs, R. A.

In: Mammalian Genome, Vol. 6, No. 5, 01.05.1995, p. 334-338.

Research output: Contribution to journalArticle

Oeltjen, J. C. ; Liu, X. ; Lu, J. ; Allen, R. C. ; Muzny, D. ; Belmont, J. W. ; Gibbs, R. A. / Sixty-nine kilobases of contiguous human genomic sequence containing the α-galactosidase A and Bruton's tyrosine kinase loci. In: Mammalian Genome. 1995 ; Vol. 6, No. 5. pp. 334-338.
@article{dbb60f980e394646b89abbf9d9a0b1a5,
title = "Sixty-nine kilobases of contiguous human genomic sequence containing the α-galactosidase A and Bruton's tyrosine kinase loci",
abstract = "Several disease loci have been mapped to the Xq21.3-Xq22 region of the human X Chromosome (Chr) including X-linked agammaglobulinemia (XLA), Fabry disease, Alport syndrome, and Pelizaeus Merzbacher disease. Upon cloning of the XLA gene, Bruton's tyrosine kinase (btk), both Fabry disease and XLA were mapped within the same 50- to 70-kb interval. In order to investigate the genomic organization of the region surrounding btk and the Fabry disease gene, α-galactosidase A (gla), we constructed a 6-cosmid contig spanning the region from 5′ of gla to 3′ of btk. Two of these cosmids spanning most of the coding sequence and the upstream region of btk and gla, U237D10 and U230D1, were sequenced by a random shotgun strategy combined with automated sequencing, resulting in 69 kb of contiguous genomic sequence. Sequencing of U237D10 showed btk to be comprised of 19 exons spanning over 35 kb. Sequencing of U230D1 showed that the 3′ end of gla is 9 kb from the 5′ end of btk and also demonstrated the presence of two additional genes in the region immediately 5′ to btk. The surprisingly high gene density is similar to that seen previously only in the human major histocompatibility locus.",
author = "Oeltjen, {J. C.} and X. Liu and J. Lu and Allen, {R. C.} and D. Muzny and Belmont, {J. W.} and Gibbs, {R. A.}",
year = "1995",
month = "5",
day = "1",
doi = "10.1007/BF00364796",
language = "English",
volume = "6",
pages = "334--338",
journal = "Mammalian Genome",
issn = "0938-8990",
publisher = "Springer New York",
number = "5",

}

TY - JOUR

T1 - Sixty-nine kilobases of contiguous human genomic sequence containing the α-galactosidase A and Bruton's tyrosine kinase loci

AU - Oeltjen, J. C.

AU - Liu, X.

AU - Lu, J.

AU - Allen, R. C.

AU - Muzny, D.

AU - Belmont, J. W.

AU - Gibbs, R. A.

PY - 1995/5/1

Y1 - 1995/5/1

N2 - Several disease loci have been mapped to the Xq21.3-Xq22 region of the human X Chromosome (Chr) including X-linked agammaglobulinemia (XLA), Fabry disease, Alport syndrome, and Pelizaeus Merzbacher disease. Upon cloning of the XLA gene, Bruton's tyrosine kinase (btk), both Fabry disease and XLA were mapped within the same 50- to 70-kb interval. In order to investigate the genomic organization of the region surrounding btk and the Fabry disease gene, α-galactosidase A (gla), we constructed a 6-cosmid contig spanning the region from 5′ of gla to 3′ of btk. Two of these cosmids spanning most of the coding sequence and the upstream region of btk and gla, U237D10 and U230D1, were sequenced by a random shotgun strategy combined with automated sequencing, resulting in 69 kb of contiguous genomic sequence. Sequencing of U237D10 showed btk to be comprised of 19 exons spanning over 35 kb. Sequencing of U230D1 showed that the 3′ end of gla is 9 kb from the 5′ end of btk and also demonstrated the presence of two additional genes in the region immediately 5′ to btk. The surprisingly high gene density is similar to that seen previously only in the human major histocompatibility locus.

AB - Several disease loci have been mapped to the Xq21.3-Xq22 region of the human X Chromosome (Chr) including X-linked agammaglobulinemia (XLA), Fabry disease, Alport syndrome, and Pelizaeus Merzbacher disease. Upon cloning of the XLA gene, Bruton's tyrosine kinase (btk), both Fabry disease and XLA were mapped within the same 50- to 70-kb interval. In order to investigate the genomic organization of the region surrounding btk and the Fabry disease gene, α-galactosidase A (gla), we constructed a 6-cosmid contig spanning the region from 5′ of gla to 3′ of btk. Two of these cosmids spanning most of the coding sequence and the upstream region of btk and gla, U237D10 and U230D1, were sequenced by a random shotgun strategy combined with automated sequencing, resulting in 69 kb of contiguous genomic sequence. Sequencing of U237D10 showed btk to be comprised of 19 exons spanning over 35 kb. Sequencing of U230D1 showed that the 3′ end of gla is 9 kb from the 5′ end of btk and also demonstrated the presence of two additional genes in the region immediately 5′ to btk. The surprisingly high gene density is similar to that seen previously only in the human major histocompatibility locus.

UR - http://www.scopus.com/inward/record.url?scp=0029294104&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0029294104&partnerID=8YFLogxK

U2 - 10.1007/BF00364796

DO - 10.1007/BF00364796

M3 - Article

C2 - 7626884

AN - SCOPUS:0029294104

VL - 6

SP - 334

EP - 338

JO - Mammalian Genome

JF - Mammalian Genome

SN - 0938-8990

IS - 5

ER -