Integrated Radiation Hybrid and Yeast Artificial Chromosome Map of Chromosome 9p

Bouzyk, M.; Bryant, S.P.; Evans, C.; Guioli, Silvana; Ford, S.; Schmidt, K.; Goodfellow, P.N.; Povey, S.; Rebello, M.; Rousseaux, S.; Spurr, N. K.

doi:10.1159/000484781

Cited by 8 publications

(8 citation statements)

References 27 publications

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“…However, it is likely that the D9S171 region resides approximately 3 Mb proximal to the CDKN2A region, since the D9S171 locus was assigned 3.6 cM proximal to the IFNA locus in a genetic linkage map (Zahn and Kwiatkowski, 1995), and the IFNA locus was physically assigned 400-500 kb distal to the CDKN2A locus Cairns et al, 1995;Olopade et al, 1995). This estimation is consistent with the previous ones, since the distance between the D9S171 and IFNA loci was estimated as being more than 2 Mb in a YAC contig map (Povey et al, 1994), and the distance between the D9S171 and IFNA loci was estimated as being 2.8 Mb in a radiation hybrid map (Bouzyk et al, 1997). Thus, 2 regions of 3 Mb distance in 9p21 are independently deleted in lung cancers.…”

Section: Discussionsupporting

confidence: 85%

“…The other is the D9S171 region that was independent of (not contiguous with) the homozygous deletions affecting the CDKN2A gene. The physical distance between the CDKN2A and D9S171 regions is unclear, since YAC maps published to date contain gaps between the 2 loci (Bouzyk et al, 1997; http://gdbwww.gdb.org/gdb/). However, it is likely that the D9S171 region resides approximately 3 Mb proximal to the CDKN2A region, since the D9S171 locus was assigned 3.6 cM proximal to the IFNA locus in a genetic linkage map (Zahn and Kwiatkowski, 1995), and the IFNA locus was physically assigned 400-500 kb distal to the CDKN2A locus Cairns et al, 1995;Olopade et al, 1995).…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Two regions of homozygous deletion clusters at chromosome band 9p21 in human lung cancer

Hamada¹,

Takahashi²,

Yamazaki³

et al. 2000

Genes Chromosom. Cancer

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We examined 149 lung cancer cell lines for homozygous deletions using 24 DNA markers, which were mapped and ordered in chromosome band 9p21, to define the target regions for 9p21 deletions in human lung cancer. Homozygous deletions were detected in 39 (26%) cell lines and clustered at 2 independent regions. One was the region containing the p16/CDKN2A tumor suppressor gene, and this region was deleted in 32 (21%) cell lines. The other was the region containing D9S171, which is the locus approximately 3 Mb proximal to the CDKN2A locus. This region, designated as the D9S171 region, was deleted in 18 (12%) cell lines. Seven of the 18 cell lines had identical minimum deletions of a 17,036 bp sequence located 20 kb distal to the D9S171 locus. However, such a deletion was also observed in the corresponding B-lymphoblastoid cell line from 1 of the 7 cell lines and in 5 (16%) of 32 noncancerous tissues, suggesting that the deletion was a genetic polymorphism. By considering this polymorphism, 11 (7%) cell lines still had deletions at the D9S171 region. Two NSCLC cell lines showed deletions at the D9S171 region and retentions of the CDKN2A locus. Furthermore, an NSCLC cell line showed discontinuous deletions including either the CDKN2A or D9S171 locus. Therefore, the region surrounding the D9S171 locus was defined as another target region for the 9p21 deletions. It is possible that unknown tumor suppressor gene(s) are present in this chromosomal region. Genes Chromosomes Cancer 27:308-318, 2000.

show abstract

Section: Discussionsupporting

confidence: 85%

Section: Discussionmentioning

confidence: 99%

Two regions of homozygous deletion clusters at chromosome band 9p21 in human lung cancer

Hamada¹,

Takahashi²,

Yamazaki³

et al. 2000

Genes Chromosom. Cancer

View full text Add to dashboard Cite

show abstract

“…However, it is likely that the D9S171 region resides approximately 3 Mb proximal to the CDKN2A region, since the D9S171 locus was assigned 3.6 cM proximal to the IFNA locus in a genetic linkage map (Zahn and Kwiatkowski, 1995), and the IFNA locus was physically assigned 400–500 kb distal to the CDKN2A locus (Weaver‐Feldhaus et al, 1994; Cairns et al, 1995; Olopade et al, 1995). This estimation is consistent with the previous ones, since the distance between the D9S171 and IFNA loci was estimated as being more than 2 Mb in a YAC contig map (Povey et al, 1994), and the distance between the D9S171 and IFNA loci was estimated as being 2.8 Mb in a radiation hybrid map (Bouzyk et al, 1997). Thus, 2 regions of 3 Mb distance in 9p21 are independently deleted in lung cancers.…”

Section: Discussionsupporting

confidence: 88%

“…The other is the D9S171 region that was independent of (not contiguous with) the homozygous deletions affecting the CDKN2A gene. The physical distance between the CDKN2A and D9S171 regions is unclear, since YAC maps published to date contain gaps between the 2 loci (Bouzyk et al, 1997; http://gdbwww.gdb.org/gdb/). However, it is likely that the D9S171 region resides approximately 3 Mb proximal to the CDKN2A region, since the D9S171 locus was assigned 3.6 cM proximal to the IFNA locus in a genetic linkage map (Zahn and Kwiatkowski, 1995), and the IFNA locus was physically assigned 400–500 kb distal to the CDKN2A locus (Weaver‐Feldhaus et al, 1994; Cairns et al, 1995; Olopade et al, 1995).…”

Section: Discussionmentioning

confidence: 99%

Two regions of homozygous deletion clusters at chromosome band 9p21 in human lung cancer

Hamada

Kohno²,

Takahashi³

et al. 2000

Genes Chromosomes Cancer

View full text Add to dashboard Cite

We examined 149 lung cancer cell lines for homozygous deletions using 24 DNA markers, which were mapped and ordered in chromosome band 9p21, to define the target regions for 9p21 deletions in human lung cancer. Homozygous deletions were detected in 39 (26%) cell lines and clustered at 2 independent regions. One was the region containing the p16/CDKN2A tumor suppressor gene, and this region was deleted in 32 (21%) cell lines. The other was the region containing D9S171, which is the locus approximately 3 Mb proximal to the CDKN2A locus. This region, designated as the D9S171 region, was deleted in 18 (12%) cell lines. Seven of the 18 cell lines had identical minimum deletions of a 17,036 bp sequence located 20 kb distal to the D9S171 locus. However, such a deletion was also observed in the corresponding B‐lymphoblastoid cell line from 1 of the 7 cell lines and in 5 (16%) of 32 noncancerous tissues, suggesting that the deletion was a genetic polymorphism. By considering this polymorphism, 11 (7%) cell lines still had deletions at the D9S171 region. Two NSCLC cell lines showed deletions at the D9S171 region and retentions of the CDKN2A locus. Furthermore, an NSCLC cell line showed discontinuous deletions including either the CDKN2A or D9S171 locus. Therefore, the region surrounding the D9S171 locus was defined as another target region for the 9p21 deletions. It is possible that unknown tumor suppressor gene(s) are present in this chromosomal region. Genes Chromosomes Cancer 27:308–318, 2000. © 2000 Wiley‐Liss, Inc.

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“…2, and the data are summarized in Table 4. The locus order and the chromosomal locations are based on the previous reports (13,26,27). The 34H2 probe detected positive signals on both the normal and the abnormal chromosome 9 in cases 1 and 5 and on the normal chromosome 9 alone in the remaining cases.…”

Section: Fish Analysismentioning

confidence: 99%

Sex-Determining Gene(s) on Distal 9p: Clinical and Molecular Studies in Six Cases*

Muroya

Okuyama²,

Goishi

et al. 2000

The Journal of Clinical Endocrinology &Amp; Metabolism

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We report on clinical and molecular findings in five karyotypic males (cases 1-5) and one karyotypic female (case 6) with distal 9p monosomy. Cases 1-3 and 6 had female external genitalia, case 4 showed ambiguous external genitalia, and case 5 exhibited male external genitalia with left cryptorchidism and right intrascrotal testis. Gonadal explorations at gonadectomy in cases 3 and 4 revealed that case 3 had left streak gonad and right agonadism, and case 4 had bilateral hypoplastic testes. Endocrine studies in cases 1-4 and 6 showed that cases 1, 3, and 6 had definite primary hypogonadism, with basal FSH levels of 54, 39, and 41 IU/L, respectively, whereas case 2 with severe malnutrition was unremarkable for the baseline values, and case 4 had fairly good testicular function. Fluorescence in situ hybridization and microsatellite analyses demonstrated that all cases had hemizygosity of the 9p sex-determining region distal to D9S1779, with loss of the candidate sex-determining genes DMRT1 and DMRT2 from the abnormal chromosome 9. Sequence analysis in cases 1-4 and 6 showed that they had normal sequences of each exon of DMRT1 and the DM domain of DMRT2 on the normal chromosome 9, and that cases 1-4 had normal SRY sequence. The results provide further support for the presence of a sex-determining gene(s) on distal 9p and favor the possibility of DMRT1 and/or DMRT2 being the sex-determining gene(s). Furthermore, as hemizygosity of the 9p sex-determining region was associated with a wide spectrum of gonadogenesis from agonadism to testis formation in karyotypic males and with primary hypogonadism regardless of karyotypic sex, it is inferred that haploinsufficiency of the 9p sex-determining gene(s) primarily hinders the formation of indifferent gonad, leading to various degrees of defective testis formation in karyotypic males and impaired ovary formation in karyotypic females.

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Integrated Radiation Hybrid and Yeast Artificial Chromosome Map of Chromosome 9p

Cited by 8 publications

References 27 publications

Two regions of homozygous deletion clusters at chromosome band 9p21 in human lung cancer

Two regions of homozygous deletion clusters at chromosome band 9p21 in human lung cancer

Two regions of homozygous deletion clusters at chromosome band 9p21 in human lung cancer

Sex-Determining Gene(s) on Distal 9p: Clinical and Molecular Studies in Six Cases*

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