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A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes.

作者信息

Buiting K, Greger V, Brownstein B H, Mohr R M, Voiculescu I, Winterpacht A, Zabel B, Horsthemke B

机构信息

Institut für Humangenetik, Universitätsklinikum Essen, Federal Republic of Germany.

出版信息

Proc Natl Acad Sci U S A. 1992 Jun 15;89(12):5457-61. doi: 10.1073/pnas.89.12.5457.

DOI:10.1073/pnas.89.12.5457
PMID:1608955
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC49311/
Abstract

The genetic defects in Prader-Willi syndrome (PWS) and Angelman syndrome (AS) map to 15q11-13. Using microdissection, we have recently isolated several DNA probes for the critical region. Here we report that microclone MN7 detects multiple loci in 15q11-13 and 16p11.2. Eight yeast artificial chromosome (YAC) clones, two genomic phage clones, and two placenta cDNA clones were isolated to analyze these loci in detail. Two of the YAC clones map to 16p. Six YAC clones and two genomic phage clones contain a total of four or five different MN7 copies, which are spread over a large distance within 15q11-13. One cDNA clone is from chromosome 15 and one is from chromosome 16. The chromosome 15 cDNA detects transcripts of 14 and 8 kilobases in various human tissues. The presence of multiple copies of the MN7 gene family in proximal 15q may conceivably be related to the instability of this region and thus to the etiology of associated disorders.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf71/49311/cfbca309a2b1/pnas01086-0267-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf71/49311/e96dbf96a2c8/pnas01086-0266-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf71/49311/bb00b231316c/pnas01086-0267-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf71/49311/2e5d4fd9ef02/pnas01086-0267-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf71/49311/cfbca309a2b1/pnas01086-0267-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf71/49311/e96dbf96a2c8/pnas01086-0266-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf71/49311/bb00b231316c/pnas01086-0267-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf71/49311/2e5d4fd9ef02/pnas01086-0267-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf71/49311/cfbca309a2b1/pnas01086-0267-c.jpg

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1
A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes.
Proc Natl Acad Sci U S A. 1992 Jun 15;89(12):5457-61. doi: 10.1073/pnas.89.12.5457.
2
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis.通过酵母人工染色体克隆和荧光原位杂交分析对普拉德-威利/安吉尔曼综合征区域（15q11 - 13）进行分子剖析。
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3
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A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.普拉德-威利/安吉尔曼综合征染色体区域（15q11-q13）的完整酵母人工染色体连续克隆系及SNRPN基因的精细定位。
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5
Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes.MN7（D15F37）基因家族的表达拷贝在普拉德-威利综合征/安吉尔曼综合征中靠近常见缺失断点处定位。
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Characterization of a DNA sequence family in the Prader-Willi/Angelman syndrome chromosome region in 15q11-q13.15q11 - q13区域普拉德 - 威利/安吉尔曼综合征染色体区域中一个DNA序列家族的特征分析。
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The syntenic relationship between the critical deletion region for the Prader-Willi/Angelman syndromes and proximal mouse chromosome 7.普拉德-威利综合征/安吉尔曼综合征关键缺失区域与小鼠近端7号染色体之间的同线关系。
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Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes.普拉德-威利综合征、天使综合征和15q11-q13重复综合征。
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本文引用的文献

1
Human immunoglobulin D segments encoded in tandem multigenic families.串联多基因家族中编码的人类免疫球蛋白D区段。
Nature. 1981 Dec 17;294(5842):631-5. doi: 10.1038/294631a0.
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Separation of chromosomal DNA molecules from yeast by orthogonal-field-alternation gel electrophoresis.通过正交交变电场凝胶电泳从酵母中分离染色体DNA分子。
Nucleic Acids Res. 1984 Jul 25;12(14):5647-64. doi: 10.1093/nar/12.14.5647.
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Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome.39例普拉德-威利综合征患者的临床与细胞遗传学调查
普拉德-威利综合征和安吉尔曼综合征中的染色体断裂涉及近端和远端断点处大型转录重复序列之间的重组。
Am J Hum Genet. 1999 Aug;65(2):370-86. doi: 10.1086/302510.
4
A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice.一种具有多种功能基序的非常大的蛋白质在rjs（矮小、抽搐、不育）小鼠中缺乏。
Proc Natl Acad Sci U S A. 1998 Aug 4;95(16):9436-41. doi: 10.1073/pnas.95.16.9436.
5
The mechanisms involved in formation of deletions and duplications of 15q11-q13.15q11-q13缺失和重复形成所涉及的机制。
J Med Genet. 1998 Feb;35(2):130-6. doi: 10.1136/jmg.35.2.130.
6
Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.15号染色体最大倒位重复中常见断点的分子细胞遗传学证据。
Am J Hum Genet. 1998 Apr;62(4):925-36. doi: 10.1086/301777.
7
Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb.15号染色体15q11 - q13上普拉德-威利/安吉尔曼区域的整合酵母人工染色体（YAC）重叠群图谱，平均序列标签位点（STS）间距为35千碱基对（kb）。
Genome Res. 1998 Feb;8(2):146-57. doi: 10.1101/gr.8.2.146.
8
Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.涉及15q11-q13的家族性易位可导致间质性缺失，从而引起普拉德-威利综合征或安吉尔曼综合征。
J Med Genet. 1996 Oct;33(10):848-51. doi: 10.1136/jmg.33.10.848.
9
Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.威廉姆斯综合征中7号染色体缺失的分子定义及亲本来源对生长的影响。
Am J Hum Genet. 1996 Oct;59(4):781-92.
10
Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus.小鼠粉红眼稀释（p）位点36个突变的分子分析。
Genetics. 1995 Dec;141(4):1563-71. doi: 10.1093/genetics/141.4.1563.
Am J Med Genet. 1986 Mar;23(3):793-809. doi: 10.1002/ajmg.1320230307.
4
Is Angelman syndrome an alternate result of del(15)(q11q13)?安吉尔曼综合征是15号染色体长臂1区1带至1区3带缺失（del(15)(q11q13)）的另一种结果吗？
Am J Med Genet. 1987 Dec;28(4):829-38. doi: 10.1002/ajmg.1320280407.
5
Second Annual Prader-Willi Syndrome Scientific Conference. Houston, June 17, 1987. Proceedings and abstracts.
Am J Med Genet. 1987 Dec;28(4):779-924. doi: 10.1002/ajmg.1320280402.
6
Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance.与15号染色体长臂缺失相关的临床异质性：3例新病例报告及其可能的遗传学意义。
Am J Med Genet. 1987 Sep;28(1):45-53. doi: 10.1002/ajmg.1320280107.
7
In situ hybridization of metaphase and prometaphase chromosomes.
Methods Enzymol. 1987;151:279-92. doi: 10.1016/s0076-6879(87)51024-2.
8
Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome.与普拉德-威利综合征15号染色体不稳定性相关的分子探针的分离。
Proc Natl Acad Sci U S A. 1986 Jun;83(12):4408-12. doi: 10.1073/pnas.83.12.4408.
9
The association of Angelman's syndrome with deletions within 15q11-13.安吉尔曼综合征与15q11 - 13区域内缺失的关联。
J Med Genet. 1989 Feb;26(2):73-7. doi: 10.1136/jmg.26.2.73.
10
Highly polymorphic locus D15S24 (CMW-1) maps to 15pter-q13. [HGM9 provisional no. D15S24].高度多态性位点D15S24（CMW-1）定位于15pter-q13。[人类基因定位第九版临时编号D15S24]
Nucleic Acids Res. 1988 Sep 12;16(17):8740. doi: 10.1093/nar/16.17.8740.