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α-肌动蛋白基因（TECTA）在小鼠9号染色体和人类11号染色体上的定位：人类常染色体显性非综合征性耳聋的一个候选基因。

Mapping of the alpha-tectorin gene (TECTA) to mouse chromosome 9 and human chromosome 11: a candidate for human autosomal dominant nonsyndromic deafness.

作者信息

Hughes D C, Legan P K, Steel K P, Richardson G P

机构信息

MRC Institute of Hearing Research, University of Nottingham, United Kingdom.

出版信息

Genomics. 1998 Feb 15;48(1):46-51. doi: 10.1006/geno.1997.5159.

DOI:10.1006/geno.1997.5159
PMID:9503015
Abstract

alpha-Tectorin is one of the major noncollagenous components of the mammalian tectorial membrane in the inner ear. We have mapped the gene encoding alpha-tectorin to mouse chromosome 9 and human chromosome 11 in a known region of conserved synteny. Human YAC clones containing alpha-tectorin have been identified, demonstrating physical linkage to the anonymous marker D11S925. This places alpha-tectorin within the genetic interval that contains both the human nonsyndromic autosomal dominant deafness DFNA12 and the proximal limit of a subset of deletions within Jacobsen syndrome. Thus both DFNA12 and the hearing loss in some cases of Jacobsen syndrome may be due to haploinsufficiency for TECTA.

摘要

α-耳盖素是哺乳动物内耳盖膜的主要非胶原蛋白成分之一。我们已将编码α-耳盖素的基因定位到小鼠9号染色体和人类11号染色体上一个已知的保守同线性区域。已鉴定出含有α-耳盖素的人类酵母人工染色体（YAC）克隆，证明其与无名标记D11S925存在物理连锁。这将α-耳盖素置于一个遗传区间内，该区间既包含人类非综合征性常染色体显性耳聋DFNA12，也包含雅各布森综合征内一部分缺失的近端界限。因此，DFNA12以及某些雅各布森综合征病例中的听力损失可能都是由于TECTA单倍剂量不足所致。

相似文献

1
Mapping of the alpha-tectorin gene (TECTA) to mouse chromosome 9 and human chromosome 11: a candidate for human autosomal dominant nonsyndromic deafness.α-肌动蛋白基因（TECTA）在小鼠9号染色体和人类11号染色体上的定位：人类常染色体显性非综合征性耳聋的一个候选基因。
Genomics. 1998 Feb 15;48(1):46-51. doi: 10.1006/geno.1997.5159.
2
Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.人类α-肌动蛋白基因的突变会导致常染色体显性非综合征性听力障碍。
Nat Genet. 1998 May;19(1):60-2. doi: 10.1038/ng0598-60.
3
Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss.与常染色体显性非综合征性听力损失相关的α-耳畸蛋白类锌黏附素结构域突变。
Eur J Hum Genet. 1999 Feb-Mar;7(2):255-8. doi: 10.1038/sj.ejhg.5200273.
4
An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.α-肌纤蛋白基因缺陷导致一种新发现的常染色体隐性遗传形式的感觉神经性先天性非综合征性耳聋，即DFNB21。
Hum Mol Genet. 1999 Mar;8(3):409-12. doi: 10.1093/hmg/8.3.409.
5
A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families.一种新型TECTA突变证实了常染色体隐性听力损失家族中可识别的表型。
Int J Pediatr Otorhinolaryngol. 2008 Feb;72(2):249-55. doi: 10.1016/j.ijporl.2007.09.023. Epub 2007 Nov 19.
6
A deafness mutation isolates a second role for the tectorial membrane in hearing.一种致聋突变揭示了盖膜在听力中的另一个作用。
Nat Neurosci. 2005 Aug;8(8):1035-42. doi: 10.1038/nn1496. Epub 2005 Jul 3.
7
Flat threshold and mid-frequency hearing impairment in a Dutch DFNA8/12 family with a novel mutation in TECTA. Some evidence for protection of the inner ear.一个荷兰DFNA8/12家系中存在TECTA基因新突变导致的平坦型阈值及中频听力减退。关于内耳保护的一些证据。
Audiol Neurootol. 2009;14(3):153-62. doi: 10.1159/000171477. Epub 2008 Nov 13.
8
Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9.人类和小鼠中一种新型耳蜗基因的定位与特征分析：一种耳聋疾病DFNA9的定位候选基因。
Genomics. 1997 Dec 15;46(3):345-54. doi: 10.1006/geno.1997.5067.
9
[From gene to disease; DFNA8/12, an autosomal dominant inherited bowl-shaped sensorineural hearing impairment].从基因到疾病；DFNA8/12，一种常染色体显性遗传的碗状感音神经性听力障碍
Ned Tijdschr Geneeskd. 2007 Mar 3;151(9):531-4.
10
Tectorin mRNA expression is spatially and temporally restricted during mouse inner ear development.在小鼠内耳发育过程中，耳盖蛋白mRNA的表达在空间和时间上受到限制。
J Comp Neurol. 1999 Mar 8;405(2):271-80.

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Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.遗传性非综合征性中频感音神经性聋致病基因的研究进展
Front Med. 2016 Jun;10(2):137-42. doi: 10.1007/s11684-016-0449-8. Epub 2016 May 3.
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A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family.
一个罕见的 TECTA 基因突变导致一个蒙古家族常染色体显性非综合征性听力损失。
BMC Med Genet. 2014 Mar 19;15:34. doi: 10.1186/1471-2350-15-34.
4
A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.一个患有常染色体显性非综合征性听力损失的中国家庭中TECTA基因的新型突变。
PLoS One. 2014 Feb 21;9(2):e89240. doi: 10.1371/journal.pone.0089240. eCollection 2014.
5
Identification of a Novel TECTA mutation in a Chinese DFNA8/12 family with prelingual progressive sensorineural hearing impairment.一个中国 DFNA8/12 家系中新型 TECTA 突变导致的语前进展性感音神经性听力损失的鉴定。
PLoS One. 2013 Jul 31;8(7):e70134. doi: 10.1371/journal.pone.0070134. Print 2013.
6
Jacobsen syndrome.雅各布森综合征
Orphanet J Rare Dis. 2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9.
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Development and maintenance of ear innervation and function: lessons from mutations in mouse and man.耳神经支配与功能的发育和维持：来自小鼠和人类突变的经验教训。
Am J Hum Genet. 1998 Nov;63(5):1263-70. doi: 10.1086/302126.