A yeast artificial chromosome (YAC) contig encompassing the critical region of the X-linked lymphoproliferative disease (XLP) locus

Arpad Lanyi, Bi Fang Li, Shao Bing Li, Catherine B. Talmadge, Beda Brichacek, Jack R. Davis, Beth A. Kozel, Barbara Trask, Ger Van Den Engh, Eva Uzvolgyi, Eric J. Stanbridge, David L. Nelson, Craig Chinault, Helen Heslop, Thomas G. Gross, Thomas A. Seemayer, George Klein, David T. Purtilo, Janos Sumegi

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

X-linked lymphoproliferative disease (XLP) is characterized by a marked vulnerability to Epstein-Barr virus (EBV) infection. Infection of XLP patients with EBV invariably results in fatal mononucleosis, agammaglobulinemia, or malignant lymphoma. Initially the XLP gene was assigned to a 10-cM region in Xq25 between DXS42 and DXS37. Subsequently, an interstitial, cytogenetically visible deletion in Xq25 was identified in one XLP family, 43. In this study we estimated the deletion in XLP patient 43- 004 by dual-laser flow karyotyping to involve 2% of the X chromosome, or approximately 3 Mb of DNA sequence. From a human chromosome Xq25-specific yeast artificial chromosome (YAC) sublibrary, five YACs containing DNA sequences deleted in patient 43-004 have been isolated. Sequence-tagged sites (STSs) from these YACs have been used to identify interstitial deletions in unrelated XLP patients. Three more families with interstitial deletions were found. Two of the patients (63-003 and 73-032) carried an interstitial deletion of 3.0 Mb overlapping the 43-004 deletion. In one XLP patient (30- 011) who exhibited the characteristic postinfectious mononucleosis phenotype of XLP with hypogammaglobulinemia and malignant lymphoma, a deletion of approximately 250 kb was detected overlapping the deletion detected in patients 43-004, 63-003, and 73-032. A YAC contig of 2.2 Mb spanning the XLP critical region, whose orientation on chromosome X was determined by double- color fluorescence in situ hybridization and which consists of 15 overlapping YAC clones, has been constructed. A detailed restriction enzyme map of the region has been constructed. YAC insert sizes were determined by counter- clamped homogenous electric field gel electrophoresis. Chimerism of YACs was determined by FISH and restriction mapping. On the basis of lambda subclones, YAC end-derived plasmids, and STSs with an average spacing of 100 kb, a long- range physical map was constructed using 5 rare-cutter restriction enzymes. The STSs and lambda subclones were used in Southern hybridization and PCR analyses. The work presented here substantially refines the critical region for XLP. The YAC contig with the overlapping interstitial deletions constitutes the basis for the construction of a transcriptional map of the critical region and facilitates the identification of the XLP gene.

Original languageEnglish (US)
Pages (from-to)55-65
Number of pages11
JournalGenomics
Volume39
Issue number1
DOIs
StatePublished - Jan 1 1997

Fingerprint

Yeast Artificial Chromosomes
Lymphoproliferative Disorders
Sequence Tagged Sites
Agammaglobulinemia
X Chromosome
Lymphoma
Karyotyping
Restriction Mapping
Chimerism
Epstein-Barr Virus Infections
Human Chromosomes
Enzymes
Fluorescence In Situ Hybridization
Human Herpesvirus 4
Genes
Electrophoresis
Lasers
Plasmids
Clone Cells
Color

ASJC Scopus subject areas

  • Genetics

Cite this

Lanyi, A., Li, B. F., Li, S. B., Talmadge, C. B., Brichacek, B., Davis, J. R., ... Sumegi, J. (1997). A yeast artificial chromosome (YAC) contig encompassing the critical region of the X-linked lymphoproliferative disease (XLP) locus. Genomics, 39(1), 55-65. https://doi.org/10.1006/geno.1996.4466

A yeast artificial chromosome (YAC) contig encompassing the critical region of the X-linked lymphoproliferative disease (XLP) locus. / Lanyi, Arpad; Li, Bi Fang; Li, Shao Bing; Talmadge, Catherine B.; Brichacek, Beda; Davis, Jack R.; Kozel, Beth A.; Trask, Barbara; Van Den Engh, Ger; Uzvolgyi, Eva; Stanbridge, Eric J.; Nelson, David L.; Chinault, Craig; Heslop, Helen; Gross, Thomas G.; Seemayer, Thomas A.; Klein, George; Purtilo, David T.; Sumegi, Janos.

In: Genomics, Vol. 39, No. 1, 01.01.1997, p. 55-65.

Research output: Contribution to journalArticle

Lanyi, A, Li, BF, Li, SB, Talmadge, CB, Brichacek, B, Davis, JR, Kozel, BA, Trask, B, Van Den Engh, G, Uzvolgyi, E, Stanbridge, EJ, Nelson, DL, Chinault, C, Heslop, H, Gross, TG, Seemayer, TA, Klein, G, Purtilo, DT & Sumegi, J 1997, 'A yeast artificial chromosome (YAC) contig encompassing the critical region of the X-linked lymphoproliferative disease (XLP) locus', Genomics, vol. 39, no. 1, pp. 55-65. https://doi.org/10.1006/geno.1996.4466
Lanyi, Arpad ; Li, Bi Fang ; Li, Shao Bing ; Talmadge, Catherine B. ; Brichacek, Beda ; Davis, Jack R. ; Kozel, Beth A. ; Trask, Barbara ; Van Den Engh, Ger ; Uzvolgyi, Eva ; Stanbridge, Eric J. ; Nelson, David L. ; Chinault, Craig ; Heslop, Helen ; Gross, Thomas G. ; Seemayer, Thomas A. ; Klein, George ; Purtilo, David T. ; Sumegi, Janos. / A yeast artificial chromosome (YAC) contig encompassing the critical region of the X-linked lymphoproliferative disease (XLP) locus. In: Genomics. 1997 ; Vol. 39, No. 1. pp. 55-65.
@article{f743323726154019a372c1162e7018ef,
title = "A yeast artificial chromosome (YAC) contig encompassing the critical region of the X-linked lymphoproliferative disease (XLP) locus",
abstract = "X-linked lymphoproliferative disease (XLP) is characterized by a marked vulnerability to Epstein-Barr virus (EBV) infection. Infection of XLP patients with EBV invariably results in fatal mononucleosis, agammaglobulinemia, or malignant lymphoma. Initially the XLP gene was assigned to a 10-cM region in Xq25 between DXS42 and DXS37. Subsequently, an interstitial, cytogenetically visible deletion in Xq25 was identified in one XLP family, 43. In this study we estimated the deletion in XLP patient 43- 004 by dual-laser flow karyotyping to involve 2{\%} of the X chromosome, or approximately 3 Mb of DNA sequence. From a human chromosome Xq25-specific yeast artificial chromosome (YAC) sublibrary, five YACs containing DNA sequences deleted in patient 43-004 have been isolated. Sequence-tagged sites (STSs) from these YACs have been used to identify interstitial deletions in unrelated XLP patients. Three more families with interstitial deletions were found. Two of the patients (63-003 and 73-032) carried an interstitial deletion of 3.0 Mb overlapping the 43-004 deletion. In one XLP patient (30- 011) who exhibited the characteristic postinfectious mononucleosis phenotype of XLP with hypogammaglobulinemia and malignant lymphoma, a deletion of approximately 250 kb was detected overlapping the deletion detected in patients 43-004, 63-003, and 73-032. A YAC contig of 2.2 Mb spanning the XLP critical region, whose orientation on chromosome X was determined by double- color fluorescence in situ hybridization and which consists of 15 overlapping YAC clones, has been constructed. A detailed restriction enzyme map of the region has been constructed. YAC insert sizes were determined by counter- clamped homogenous electric field gel electrophoresis. Chimerism of YACs was determined by FISH and restriction mapping. On the basis of lambda subclones, YAC end-derived plasmids, and STSs with an average spacing of 100 kb, a long- range physical map was constructed using 5 rare-cutter restriction enzymes. The STSs and lambda subclones were used in Southern hybridization and PCR analyses. The work presented here substantially refines the critical region for XLP. The YAC contig with the overlapping interstitial deletions constitutes the basis for the construction of a transcriptional map of the critical region and facilitates the identification of the XLP gene.",
author = "Arpad Lanyi and Li, {Bi Fang} and Li, {Shao Bing} and Talmadge, {Catherine B.} and Beda Brichacek and Davis, {Jack R.} and Kozel, {Beth A.} and Barbara Trask and {Van Den Engh}, Ger and Eva Uzvolgyi and Stanbridge, {Eric J.} and Nelson, {David L.} and Craig Chinault and Helen Heslop and Gross, {Thomas G.} and Seemayer, {Thomas A.} and George Klein and Purtilo, {David T.} and Janos Sumegi",
year = "1997",
month = "1",
day = "1",
doi = "10.1006/geno.1996.4466",
language = "English (US)",
volume = "39",
pages = "55--65",
journal = "Genomics",
issn = "0888-7543",
publisher = "Academic Press Inc.",
number = "1",

}

TY - JOUR

T1 - A yeast artificial chromosome (YAC) contig encompassing the critical region of the X-linked lymphoproliferative disease (XLP) locus

AU - Lanyi, Arpad

AU - Li, Bi Fang

AU - Li, Shao Bing

AU - Talmadge, Catherine B.

AU - Brichacek, Beda

AU - Davis, Jack R.

AU - Kozel, Beth A.

AU - Trask, Barbara

AU - Van Den Engh, Ger

AU - Uzvolgyi, Eva

AU - Stanbridge, Eric J.

AU - Nelson, David L.

AU - Chinault, Craig

AU - Heslop, Helen

AU - Gross, Thomas G.

AU - Seemayer, Thomas A.

AU - Klein, George

AU - Purtilo, David T.

AU - Sumegi, Janos

PY - 1997/1/1

Y1 - 1997/1/1

N2 - X-linked lymphoproliferative disease (XLP) is characterized by a marked vulnerability to Epstein-Barr virus (EBV) infection. Infection of XLP patients with EBV invariably results in fatal mononucleosis, agammaglobulinemia, or malignant lymphoma. Initially the XLP gene was assigned to a 10-cM region in Xq25 between DXS42 and DXS37. Subsequently, an interstitial, cytogenetically visible deletion in Xq25 was identified in one XLP family, 43. In this study we estimated the deletion in XLP patient 43- 004 by dual-laser flow karyotyping to involve 2% of the X chromosome, or approximately 3 Mb of DNA sequence. From a human chromosome Xq25-specific yeast artificial chromosome (YAC) sublibrary, five YACs containing DNA sequences deleted in patient 43-004 have been isolated. Sequence-tagged sites (STSs) from these YACs have been used to identify interstitial deletions in unrelated XLP patients. Three more families with interstitial deletions were found. Two of the patients (63-003 and 73-032) carried an interstitial deletion of 3.0 Mb overlapping the 43-004 deletion. In one XLP patient (30- 011) who exhibited the characteristic postinfectious mononucleosis phenotype of XLP with hypogammaglobulinemia and malignant lymphoma, a deletion of approximately 250 kb was detected overlapping the deletion detected in patients 43-004, 63-003, and 73-032. A YAC contig of 2.2 Mb spanning the XLP critical region, whose orientation on chromosome X was determined by double- color fluorescence in situ hybridization and which consists of 15 overlapping YAC clones, has been constructed. A detailed restriction enzyme map of the region has been constructed. YAC insert sizes were determined by counter- clamped homogenous electric field gel electrophoresis. Chimerism of YACs was determined by FISH and restriction mapping. On the basis of lambda subclones, YAC end-derived plasmids, and STSs with an average spacing of 100 kb, a long- range physical map was constructed using 5 rare-cutter restriction enzymes. The STSs and lambda subclones were used in Southern hybridization and PCR analyses. The work presented here substantially refines the critical region for XLP. The YAC contig with the overlapping interstitial deletions constitutes the basis for the construction of a transcriptional map of the critical region and facilitates the identification of the XLP gene.

AB - X-linked lymphoproliferative disease (XLP) is characterized by a marked vulnerability to Epstein-Barr virus (EBV) infection. Infection of XLP patients with EBV invariably results in fatal mononucleosis, agammaglobulinemia, or malignant lymphoma. Initially the XLP gene was assigned to a 10-cM region in Xq25 between DXS42 and DXS37. Subsequently, an interstitial, cytogenetically visible deletion in Xq25 was identified in one XLP family, 43. In this study we estimated the deletion in XLP patient 43- 004 by dual-laser flow karyotyping to involve 2% of the X chromosome, or approximately 3 Mb of DNA sequence. From a human chromosome Xq25-specific yeast artificial chromosome (YAC) sublibrary, five YACs containing DNA sequences deleted in patient 43-004 have been isolated. Sequence-tagged sites (STSs) from these YACs have been used to identify interstitial deletions in unrelated XLP patients. Three more families with interstitial deletions were found. Two of the patients (63-003 and 73-032) carried an interstitial deletion of 3.0 Mb overlapping the 43-004 deletion. In one XLP patient (30- 011) who exhibited the characteristic postinfectious mononucleosis phenotype of XLP with hypogammaglobulinemia and malignant lymphoma, a deletion of approximately 250 kb was detected overlapping the deletion detected in patients 43-004, 63-003, and 73-032. A YAC contig of 2.2 Mb spanning the XLP critical region, whose orientation on chromosome X was determined by double- color fluorescence in situ hybridization and which consists of 15 overlapping YAC clones, has been constructed. A detailed restriction enzyme map of the region has been constructed. YAC insert sizes were determined by counter- clamped homogenous electric field gel electrophoresis. Chimerism of YACs was determined by FISH and restriction mapping. On the basis of lambda subclones, YAC end-derived plasmids, and STSs with an average spacing of 100 kb, a long- range physical map was constructed using 5 rare-cutter restriction enzymes. The STSs and lambda subclones were used in Southern hybridization and PCR analyses. The work presented here substantially refines the critical region for XLP. The YAC contig with the overlapping interstitial deletions constitutes the basis for the construction of a transcriptional map of the critical region and facilitates the identification of the XLP gene.

UR - http://www.scopus.com/inward/record.url?scp=18744432112&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=18744432112&partnerID=8YFLogxK

U2 - 10.1006/geno.1996.4466

DO - 10.1006/geno.1996.4466

M3 - Article

VL - 39

SP - 55

EP - 65

JO - Genomics

JF - Genomics

SN - 0888-7543

IS - 1

ER -