Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3

Vincenza Lapenta, Vittorio Sossi, Philippe Gosset, Catherine Vayssettes, Tiziana Vitali, Natacha Rabatel, Flora Tassone, Jean Louis Blouin, Hamish S. Scott, Stylianos E. Antonarakis, Nicole Créau, Christina Brahe

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

The gene-rich telomeric region of 21q harbors several loci relevant to human diseases including autoimmune polyglandular disease type I, nonsyndromic deafness, Knobloch syndrome, holoprosencephaly, and bipolar affective disorder. A contig of genomic clones in this region would facilitate the isolation of these genes. However, distal 21q22.3 has yet been poorly mapped, presumably due to the presence of sequences that are underrepresented in yeast artificial chromosome (YAC) libraries. We generated a framework of YACs and used these clones as starting points for the isolation of a combination of bacterial artificial chromosome clones, P1- derived artificial chromosome clones, and cosmid clones by chromosome walking procedures. These studies resulted in the construction of a high-resolution contig map spanning the 2.5-Mb region from PFKL to the telomere, ~2 Mb of which are covered by ready-to-sequence contigs. Within this map we determined the location and relative distance of 21 markers. These include 9 established genetic markers, the order of which is cen-PFKL-D21S154-D21S170-D21S171- D21S1903-D21S1897-D21S112-D21S1446-D21S1575-tel. Moreover, we established the precise map position of 13 genes and 4 ESTs including the recently isolated genes C21ORF2, SMT3H1, RNA editing deaminase 1 (ADARB1), folate transporter (SLC19A1), COL18A1, lanosterol synthase (LSS-PEN), pericentrin (PCNT), and arginine methyltransferase (HRMT1L1). This integrated map provides a useful resource for the mapping and isolation of disease genes and for the construction of a complete transcription map of distal 21q as well as for large-scale sequencing efforts.

Original languageEnglish (US)
Pages (from-to)1-13
Number of pages13
JournalGenomics
Volume49
Issue number1
DOIs
StatePublished - Apr 1 1998
Externally publishedYes

Fingerprint

Clone Cells
Genes
P1 Bacteriophage Artificial Chromosomes
Chromosome Walking
Reduced Folate Carrier Protein
Holoprosencephaly
Yeast Artificial Chromosomes
RNA Editing
Bacterial Artificial Chromosomes
Cosmids
Gene Order
Expressed Sequence Tags
Telomere
Mood Disorders
Bipolar Disorder
Genetic Markers
Autoimmune Diseases

ASJC Scopus subject areas

  • Genetics

Cite this

Lapenta, V., Sossi, V., Gosset, P., Vayssettes, C., Vitali, T., Rabatel, N., ... Brahe, C. (1998). Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3. Genomics, 49(1), 1-13. https://doi.org/10.1006/geno.1997.5185

Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3. / Lapenta, Vincenza; Sossi, Vittorio; Gosset, Philippe; Vayssettes, Catherine; Vitali, Tiziana; Rabatel, Natacha; Tassone, Flora; Blouin, Jean Louis; Scott, Hamish S.; Antonarakis, Stylianos E.; Créau, Nicole; Brahe, Christina.

In: Genomics, Vol. 49, No. 1, 01.04.1998, p. 1-13.

Research output: Contribution to journalArticle

Lapenta, V, Sossi, V, Gosset, P, Vayssettes, C, Vitali, T, Rabatel, N, Tassone, F, Blouin, JL, Scott, HS, Antonarakis, SE, Créau, N & Brahe, C 1998, 'Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3', Genomics, vol. 49, no. 1, pp. 1-13. https://doi.org/10.1006/geno.1997.5185
Lapenta V, Sossi V, Gosset P, Vayssettes C, Vitali T, Rabatel N et al. Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3. Genomics. 1998 Apr 1;49(1):1-13. https://doi.org/10.1006/geno.1997.5185
Lapenta, Vincenza ; Sossi, Vittorio ; Gosset, Philippe ; Vayssettes, Catherine ; Vitali, Tiziana ; Rabatel, Natacha ; Tassone, Flora ; Blouin, Jean Louis ; Scott, Hamish S. ; Antonarakis, Stylianos E. ; Créau, Nicole ; Brahe, Christina. / Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3. In: Genomics. 1998 ; Vol. 49, No. 1. pp. 1-13.
@article{d6a7960d9bb44d32ae3ede95d02bcf4c,
title = "Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3",
abstract = "The gene-rich telomeric region of 21q harbors several loci relevant to human diseases including autoimmune polyglandular disease type I, nonsyndromic deafness, Knobloch syndrome, holoprosencephaly, and bipolar affective disorder. A contig of genomic clones in this region would facilitate the isolation of these genes. However, distal 21q22.3 has yet been poorly mapped, presumably due to the presence of sequences that are underrepresented in yeast artificial chromosome (YAC) libraries. We generated a framework of YACs and used these clones as starting points for the isolation of a combination of bacterial artificial chromosome clones, P1- derived artificial chromosome clones, and cosmid clones by chromosome walking procedures. These studies resulted in the construction of a high-resolution contig map spanning the 2.5-Mb region from PFKL to the telomere, ~2 Mb of which are covered by ready-to-sequence contigs. Within this map we determined the location and relative distance of 21 markers. These include 9 established genetic markers, the order of which is cen-PFKL-D21S154-D21S170-D21S171- D21S1903-D21S1897-D21S112-D21S1446-D21S1575-tel. Moreover, we established the precise map position of 13 genes and 4 ESTs including the recently isolated genes C21ORF2, SMT3H1, RNA editing deaminase 1 (ADARB1), folate transporter (SLC19A1), COL18A1, lanosterol synthase (LSS-PEN), pericentrin (PCNT), and arginine methyltransferase (HRMT1L1). This integrated map provides a useful resource for the mapping and isolation of disease genes and for the construction of a complete transcription map of distal 21q as well as for large-scale sequencing efforts.",
author = "Vincenza Lapenta and Vittorio Sossi and Philippe Gosset and Catherine Vayssettes and Tiziana Vitali and Natacha Rabatel and Flora Tassone and Blouin, {Jean Louis} and Scott, {Hamish S.} and Antonarakis, {Stylianos E.} and Nicole Cr{\'e}au and Christina Brahe",
year = "1998",
month = "4",
day = "1",
doi = "10.1006/geno.1997.5185",
language = "English (US)",
volume = "49",
pages = "1--13",
journal = "Genomics",
issn = "0888-7543",
publisher = "Academic Press Inc.",
number = "1",

}

TY - JOUR

T1 - Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3

AU - Lapenta, Vincenza

AU - Sossi, Vittorio

AU - Gosset, Philippe

AU - Vayssettes, Catherine

AU - Vitali, Tiziana

AU - Rabatel, Natacha

AU - Tassone, Flora

AU - Blouin, Jean Louis

AU - Scott, Hamish S.

AU - Antonarakis, Stylianos E.

AU - Créau, Nicole

AU - Brahe, Christina

PY - 1998/4/1

Y1 - 1998/4/1

N2 - The gene-rich telomeric region of 21q harbors several loci relevant to human diseases including autoimmune polyglandular disease type I, nonsyndromic deafness, Knobloch syndrome, holoprosencephaly, and bipolar affective disorder. A contig of genomic clones in this region would facilitate the isolation of these genes. However, distal 21q22.3 has yet been poorly mapped, presumably due to the presence of sequences that are underrepresented in yeast artificial chromosome (YAC) libraries. We generated a framework of YACs and used these clones as starting points for the isolation of a combination of bacterial artificial chromosome clones, P1- derived artificial chromosome clones, and cosmid clones by chromosome walking procedures. These studies resulted in the construction of a high-resolution contig map spanning the 2.5-Mb region from PFKL to the telomere, ~2 Mb of which are covered by ready-to-sequence contigs. Within this map we determined the location and relative distance of 21 markers. These include 9 established genetic markers, the order of which is cen-PFKL-D21S154-D21S170-D21S171- D21S1903-D21S1897-D21S112-D21S1446-D21S1575-tel. Moreover, we established the precise map position of 13 genes and 4 ESTs including the recently isolated genes C21ORF2, SMT3H1, RNA editing deaminase 1 (ADARB1), folate transporter (SLC19A1), COL18A1, lanosterol synthase (LSS-PEN), pericentrin (PCNT), and arginine methyltransferase (HRMT1L1). This integrated map provides a useful resource for the mapping and isolation of disease genes and for the construction of a complete transcription map of distal 21q as well as for large-scale sequencing efforts.

AB - The gene-rich telomeric region of 21q harbors several loci relevant to human diseases including autoimmune polyglandular disease type I, nonsyndromic deafness, Knobloch syndrome, holoprosencephaly, and bipolar affective disorder. A contig of genomic clones in this region would facilitate the isolation of these genes. However, distal 21q22.3 has yet been poorly mapped, presumably due to the presence of sequences that are underrepresented in yeast artificial chromosome (YAC) libraries. We generated a framework of YACs and used these clones as starting points for the isolation of a combination of bacterial artificial chromosome clones, P1- derived artificial chromosome clones, and cosmid clones by chromosome walking procedures. These studies resulted in the construction of a high-resolution contig map spanning the 2.5-Mb region from PFKL to the telomere, ~2 Mb of which are covered by ready-to-sequence contigs. Within this map we determined the location and relative distance of 21 markers. These include 9 established genetic markers, the order of which is cen-PFKL-D21S154-D21S170-D21S171- D21S1903-D21S1897-D21S112-D21S1446-D21S1575-tel. Moreover, we established the precise map position of 13 genes and 4 ESTs including the recently isolated genes C21ORF2, SMT3H1, RNA editing deaminase 1 (ADARB1), folate transporter (SLC19A1), COL18A1, lanosterol synthase (LSS-PEN), pericentrin (PCNT), and arginine methyltransferase (HRMT1L1). This integrated map provides a useful resource for the mapping and isolation of disease genes and for the construction of a complete transcription map of distal 21q as well as for large-scale sequencing efforts.

UR - http://www.scopus.com/inward/record.url?scp=0032054315&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0032054315&partnerID=8YFLogxK

U2 - 10.1006/geno.1997.5185

DO - 10.1006/geno.1997.5185

M3 - Article

C2 - 9570943

AN - SCOPUS:0032054315

VL - 49

SP - 1

EP - 13

JO - Genomics

JF - Genomics

SN - 0888-7543

IS - 1

ER -