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21q22.3区域全前脑畸形关键区域的物理图谱绘制、将SIM2排除在全前脑畸形候选基因之外以及将SIM2定位到21号染色体上对唐氏综合征很重要的一个区域。

Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome.

作者信息

Muenke M, Bone L J, Mitchell H F, Hart I, Walton K, Hall-Johnson K, Ippel E F, Dietz-Band J, Kvaløy K, Fan C M

机构信息

Children's Hospital of Philadelphia, PA 19104-4399, USA.

出版信息

Am J Hum Genet. 1995 Nov;57(5):1074-9.

PMID:7485157
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1801356/
Abstract

We set out to define the holoprosencephaly (HPE) critical region on chromosome 21 and also to determine whether there were human homologues of the Drosophila single-minded (sim) gene that might be involved in HPE. Analysis of somatic cell hybrid clones that contained rearranged chromosomes 21 from HPE patients defined the HPE minimal critical region in 21q22.3 as D21S113 to qter. We used established somatic cell hybrid mapping panels to map SIM2 to chromosome 21 within subbands q22.2-q22.3. Analysis of the HPE patient-derived somatic cell hybrids showed that SIM2 is not deleted in two of three patients and thus is not a likely candidate for HPE1, the HPE gene on chromosome 21. However, SIM2 does map within the Down syndrome critical region and thus is a candidate gene that might contribute to the Down syndrome phenotype.

摘要

我们着手确定21号染色体上的全前脑畸形（HPE）关键区域，并确定是否存在可能与HPE相关的果蝇单-minded（sim）基因的人类同源物。对含有来自HPE患者的重排21号染色体的体细胞杂交克隆进行分析，将HPE最小关键区域定位于21q22.3，范围从D21S113到qter。我们使用已建立的体细胞杂交定位板将SIM2定位于21号染色体的q22.2 - q22.3亚带内。对源自HPE患者的体细胞杂种的分析表明，在三名患者中的两名中，SIM2并未缺失，因此它不太可能是21号染色体上的HPE基因HPE1的候选基因。然而，SIM2确实定位于唐氏综合征关键区域内，因此是一个可能导致唐氏综合征表型的候选基因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bd1/1801356/103e266b9bfe/ajhg00037-0092-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bd1/1801356/103e266b9bfe/ajhg00037-0092-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bd1/1801356/103e266b9bfe/ajhg00037-0092-a.jpg

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本文引用的文献

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Nat Genet. 1993 Mar;3(3):247-51. doi: 10.1038/ng0393-247.
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Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.一致的染色体异常确定了1p36.3、2p16.1 - p23.1、4q21.21 - q22.1、6q26 - q27和21q2区域的新型多小脑回位点。
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Holoprosencephaly.前脑无裂畸形
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Identification of a novel basic helix-loop-helix-PAS factor, NXF, reveals a Sim2 competitive, positive regulatory role in dendritic-cytoskeleton modulator drebrin gene expression.一种新型碱性螺旋-环-螺旋-PAS因子NXF的鉴定揭示了其在树突细胞骨架调节剂drebrin基因表达中对Sim2具有竞争性的正向调节作用。
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Perfect conserved linkage across the entire mouse chromosome 10 region homologous to human chromosome 21.与人类21号染色体同源的整个小鼠10号染色体区域存在完美的保守连锁。
Genome Res. 1999 Dec;9(12):1214-22. doi: 10.1101/gr.9.12.1214.
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PAS domains: internal sensors of oxygen, redox potential, and light.PAS结构域：氧气、氧化还原电位和光的内部传感器。
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Holoprosencephaly: a paradigm for the complex genetics of brain development.全前脑畸形：脑发育复杂遗传学的一个范例。
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Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity.一种人类脑部畸形——家族性前脑无裂畸形与7号染色体的连锁关系及遗传异质性证据。
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Am J Hum Genet. 1995 Nov;57(5):1080-5.
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A male infant with holoprosencephaly, associated with ring chromosome 21.一名患有全前脑畸形的男婴，伴有21号环状染色体。
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