Genomic analysis of a NF1 -related pseudogene on human chromosome 21

Harukazu Suzuki, Naoki Ozawa, Chiharu Taga, Takeshi Kano, Masahira Hattori, Yoshiyuki Sakaki

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

A neurofibromatosis type-1 (NF1)-related locus on human chromosome 21 has been characterized. A detailed genomic mapping performed by yeast artificial chromosome (YAC) dot-hybridization revealed that the NF1-related locus is close to the sequence-tagged site (STS), D21S329 (G52E12), which is located on the proximal region of 21q11.2. Sequence analysis showed that this locus seemed to be conserved to the NF1 gene only in several partial regions. Two exon-like segments corresponding to exons 8 and 9 of NF1 were found, in addition to two previously found fragments corresponding to exons 7 and 11. Other exon-like segments were not found in the region so far sequenced. Comparing these homologous segments with the NF1 cDNA, a 2-bp deletion appeared in exon 8 of the locus, resulting in the existence of stop codons in all reading frames. In addition, there were no amplified fragments derived from the related locus by reverse transcription-PCR. Thus, our results suggest that the NF1-related locus on chromosome 21 is a nonprocessed pseudogene.

Original languageEnglish
Pages (from-to)277-280
Number of pages4
JournalGene
Volume147
Issue number2
DOIs
Publication statusPublished - 1994 Sep 30
Externally publishedYes

Fingerprint

Chromosomes, Human, Pair 21
Pseudogenes
Neurofibromatosis 1
Human Chromosomes
Exons
Neurofibromatosis 1 Genes
Sequence Tagged Sites
Yeast Artificial Chromosomes
Reading Frames
Terminator Codon
Reverse Transcription
Sequence Analysis
Complementary DNA
Polymerase Chain Reaction

Keywords

  • exon
  • hereditary diseases
  • intron
  • Nucleotide sequence
  • polymerase chain reaction
  • YAC
  • yeast artificial chromosome

ASJC Scopus subject areas

  • Genetics

Cite this

Genomic analysis of a NF1 -related pseudogene on human chromosome 21. / Suzuki, Harukazu; Ozawa, Naoki; Taga, Chiharu; Kano, Takeshi; Hattori, Masahira; Sakaki, Yoshiyuki.

In: Gene, Vol. 147, No. 2, 30.09.1994, p. 277-280.

Research output: Contribution to journalArticle

Suzuki, H, Ozawa, N, Taga, C, Kano, T, Hattori, M & Sakaki, Y 1994, 'Genomic analysis of a NF1 -related pseudogene on human chromosome 21', Gene, vol. 147, no. 2, pp. 277-280. https://doi.org/10.1016/0378-1119(94)90081-7
Suzuki, Harukazu ; Ozawa, Naoki ; Taga, Chiharu ; Kano, Takeshi ; Hattori, Masahira ; Sakaki, Yoshiyuki. / Genomic analysis of a NF1 -related pseudogene on human chromosome 21. In: Gene. 1994 ; Vol. 147, No. 2. pp. 277-280.
@article{8278987ae9b54116815fb5e6df9eea4e,
title = "Genomic analysis of a NF1 -related pseudogene on human chromosome 21",
abstract = "A neurofibromatosis type-1 (NF1)-related locus on human chromosome 21 has been characterized. A detailed genomic mapping performed by yeast artificial chromosome (YAC) dot-hybridization revealed that the NF1-related locus is close to the sequence-tagged site (STS), D21S329 (G52E12), which is located on the proximal region of 21q11.2. Sequence analysis showed that this locus seemed to be conserved to the NF1 gene only in several partial regions. Two exon-like segments corresponding to exons 8 and 9 of NF1 were found, in addition to two previously found fragments corresponding to exons 7 and 11. Other exon-like segments were not found in the region so far sequenced. Comparing these homologous segments with the NF1 cDNA, a 2-bp deletion appeared in exon 8 of the locus, resulting in the existence of stop codons in all reading frames. In addition, there were no amplified fragments derived from the related locus by reverse transcription-PCR. Thus, our results suggest that the NF1-related locus on chromosome 21 is a nonprocessed pseudogene.",
keywords = "exon, hereditary diseases, intron, Nucleotide sequence, polymerase chain reaction, YAC, yeast artificial chromosome",
author = "Harukazu Suzuki and Naoki Ozawa and Chiharu Taga and Takeshi Kano and Masahira Hattori and Yoshiyuki Sakaki",
year = "1994",
month = "9",
day = "30",
doi = "10.1016/0378-1119(94)90081-7",
language = "English",
volume = "147",
pages = "277--280",
journal = "Gene",
issn = "0378-1119",
publisher = "Elsevier",
number = "2",

}

TY - JOUR

T1 - Genomic analysis of a NF1 -related pseudogene on human chromosome 21

AU - Suzuki, Harukazu

AU - Ozawa, Naoki

AU - Taga, Chiharu

AU - Kano, Takeshi

AU - Hattori, Masahira

AU - Sakaki, Yoshiyuki

PY - 1994/9/30

Y1 - 1994/9/30

N2 - A neurofibromatosis type-1 (NF1)-related locus on human chromosome 21 has been characterized. A detailed genomic mapping performed by yeast artificial chromosome (YAC) dot-hybridization revealed that the NF1-related locus is close to the sequence-tagged site (STS), D21S329 (G52E12), which is located on the proximal region of 21q11.2. Sequence analysis showed that this locus seemed to be conserved to the NF1 gene only in several partial regions. Two exon-like segments corresponding to exons 8 and 9 of NF1 were found, in addition to two previously found fragments corresponding to exons 7 and 11. Other exon-like segments were not found in the region so far sequenced. Comparing these homologous segments with the NF1 cDNA, a 2-bp deletion appeared in exon 8 of the locus, resulting in the existence of stop codons in all reading frames. In addition, there were no amplified fragments derived from the related locus by reverse transcription-PCR. Thus, our results suggest that the NF1-related locus on chromosome 21 is a nonprocessed pseudogene.

AB - A neurofibromatosis type-1 (NF1)-related locus on human chromosome 21 has been characterized. A detailed genomic mapping performed by yeast artificial chromosome (YAC) dot-hybridization revealed that the NF1-related locus is close to the sequence-tagged site (STS), D21S329 (G52E12), which is located on the proximal region of 21q11.2. Sequence analysis showed that this locus seemed to be conserved to the NF1 gene only in several partial regions. Two exon-like segments corresponding to exons 8 and 9 of NF1 were found, in addition to two previously found fragments corresponding to exons 7 and 11. Other exon-like segments were not found in the region so far sequenced. Comparing these homologous segments with the NF1 cDNA, a 2-bp deletion appeared in exon 8 of the locus, resulting in the existence of stop codons in all reading frames. In addition, there were no amplified fragments derived from the related locus by reverse transcription-PCR. Thus, our results suggest that the NF1-related locus on chromosome 21 is a nonprocessed pseudogene.

KW - exon

KW - hereditary diseases

KW - intron

KW - Nucleotide sequence

KW - polymerase chain reaction

KW - YAC

KW - yeast artificial chromosome

UR - http://www.scopus.com/inward/record.url?scp=0027990686&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0027990686&partnerID=8YFLogxK

U2 - 10.1016/0378-1119(94)90081-7

DO - 10.1016/0378-1119(94)90081-7

M3 - Article

VL - 147

SP - 277

EP - 280

JO - Gene

JF - Gene

SN - 0378-1119

IS - 2

ER -