Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3.
Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3.
复制标题
构建远端 21q22.3 的 2.5 Mb 整合物理和基因图谱。
作者：
V. Lapenta;V. Sossi;P. Gosset;C. Vayssettes;T. Vitali;N. Rabatel;F. Tassone;J. Blouin;H. Scott;S. Antonarakis;N. Créau;C. Brahe
The gene-rich telomeric region of 21q harbors several loci relevant to human diseases including autoimmune polyglandular disease type I, nonsyndromic deafness, Knobloch syndrome, holoprosencephaly, and bipolar affective disorder. A contig of genomic clones in this region would facilitate the isolation of these genes. However, distal 21q22.3 has yet been poorly mapped, presumably due to the presence of sequences that are underrepresented in yeast artificial chromosome (YAC) libraries. We generated a framework of YACs and used these clones as starting points for the isolation of a combination of bacterial artificial chromosome clones, P1-derived artificial chromosome clones, and cosmid clones by chromosome walking procedures. These studies resulted in the construction of a high-resolution contig map spanning the 2.5-Mb region from PFKL to the telomere, approximately 2 Mb of which are covered by ready-to-sequence contigs. Within this map we determined the location and relative distance of 21 markers. These include 9 established genetic markers, the order of which is cen-PFKL-D21S154-D21S170-D21S171-D21S1903- D21S1897- D21S112-D21S1446-D21S1575-tel. Moreover, we established the precise map position of 13 genes and 4 ESTs including the recently isolated genes C21ORF2, SMT3H1, RNA editing deaminase 1 (ADARB1), folate transporter (SLC19A1), COL18A1, lanosterol synthase (LSS-PEN), pericentrin (PCNT), and arginine methyltransferase (HRMT1L1). This integrated map provides a useful resource for the mapping and isolation of disease genes and for the construction of a complete transcription map of distal 21q as well as for large-scale sequencing efforts.
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人类染色体 21q 末端 300 kb DNA 的结构。
影响因子：
4.4
作者：
Reston,JT;Hu,XL;Macina,RA;Spais,C;Riethman,HC
通讯作者：
Riethman,HC
编码 VI 型胶原三链的人类基因的克隆和染色体定位。
影响因子：
9.8
作者：
Weil,D;Mattei,MG;Passage,E;N'Guyen,VC;Pribula-Conway,D;Mann,K;Deutzmann,R;Timpl,R;Chu,ML
通讯作者：
Chu,ML
通过体细胞杂交分析和原位杂交将人类叶酸转运蛋白基因分配到染色体 21q22.3。
影响因子：
3.1
作者：
Yang-Feng,TL;Ma,YY;Liang,R;Prasad,PD;Leibach,FH;Ganapathy,V
通讯作者：
Ganapathy,V
通过纤维 FISH 对人类 COL6A1 和 COL6A2 基因进行头尾组织。
DOI：
10.1006/geno.1995.9008
发表时间：
1995
期刊：
Genomics.
影响因子：
--
作者：
Heiskanen,M;Saitta,B;Palotie,A;Chu,ML
通讯作者：
Chu,ML
BAC 和 PAC 重叠群覆盖 21 号染色体上 D21S55 和 MX1 之间 3.5 Mb 的唐氏综合症先天性心脏病区域。
影响因子：
4.4
作者：
Hubert,RS;Mitchell,S;Chen,XN;Ekmekji,K;Gadomski,C;Sun,Z;Noya,D;Kim,UJ;Chen,C;Shizuya,H;Simon,M;deJong,PJ;Korenberg,JR
通讯作者：
Korenberg,JR