Screening of TCOF1 in patients from different populations:: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle

被引：49

作者：

Splendore, A

Jabs, EW

Passos-Bueno, MR

机构：

[1] Univ Sao Paulo, Dept Genet, Inst Biociencias, Ctr Estudos Genoma Humano, BR-05508900 Sao Paulo, Brazil

[2] Johns Hopkins Univ, Sch Med, Ctr Med Genet, Dept Pediat Med & Surg, Baltimore, MD 21205 USA

来源：

JOURNAL OF MEDICAL GENETICS | 2002年 / 39卷 / 07期

关键词：

D O I：

10.1136/jmg.39.7.493

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：493 / 495

页数：3

共 13 条

[1]

Dixon J, 1996, NAT GENET, V12, P130

[2] Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1 [J].

Dixon, J ;

Hovanes, K ;

Shiang, R ;

Dixon, MJ .

HUMAN MOLECULAR GENETICS, 1997, 6 (05) :727-737

[3]

Edwards SJ, 1997, AM J HUM GENET, V60, P515

[4] Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene [J].

Gladwin, AJ ;

Dixon, J ;

Loftus, SK ;

Edwards, S ;

Wasmuth, JJ ;

Hennekam, RCM ;

Dixon, MJ .

HUMAN MOLECULAR GENETICS, 1996, 5 (10) :1533-1538

[5]

Gorlin RJ., 1990, SYNDROMES HEAD NECK

[6] Canine TCOF1;: cloning, chromosome assignment and genetic analysis in dogs with different head types [J].

Haworth, KE ;

Islam, I ;

Breen, M ;

Putt, W ;

Makrinou, E ;

Binns, M ;

Hopkinson, D ;

Edwards, Y .

MAMMALIAN GENOME, 2001, 12 (08) :622-629

[7] GENETIC AND PHYSICAL MAPPING OF THE TREACHER-COLLINS SYNDROME LOCUS WITH RESPECT TO LOCI IN THE CHROMOSOME-5Q3 REGION [J].

JABS, EW ;

LI, X ;

LOVETT, M ;

YAMAOKA, LH ;

TAYLOR, E ;

SPEER, MC ;

COSS, C ;

CADLE, R ;

HALL, B ;

BROWN, K ;

KIDD, KK ;

DOLGANOV, G ;

POLYMEROPOULOS, MH ;

MEYERS, DA .

GENOMICS, 1993, 18 (01) :7-13

[8] Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacle [J].

Jones, NC ;

Farlie, PG ;

Minichiello, J ;

Newgreen, DF .

HUMAN MOLECULAR GENETICS, 1999, 8 (12) :2239-2245

[9] Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18 [J].

Paznekas, WA ;

Zhang, N ;

Gridley, T ;

Jabs, EW .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1997, 238 (01) :1-6

[10]

Splendore A, 2000, HUM MUTAT, V16, P315, DOI 10.1002/1098-1004(200010)16:4<315::AID-HUMU4>3.3.CO

← 1 2 →