Background: Mutations in genes coding for 2 desmosomal proteins, desmoglein 1 and desmoplakin, have been shown to cause autosomal dominant keratoderma palmoplantaris striata. Observations: We describe a family affecte...Background: Mutations in genes coding for 2 desmosomal proteins, desmoglein 1 and desmoplakin, have been shown to cause autosomal dominant keratoderma palmoplantaris striata. Observations: We describe a family affected with a diffuse nonstriated form of palmoplantar keratoderma. Histopathologic examination of skin biopsy specimens disclosed cell- cell disadhesion in the suprabasal layers of the epidermis, as previously described in keratoderma palmoplantaris striata. We therefore genotyped all family members using microsatellite markers encompassing 3 keratoderma palmoplantaris striata- associated loci. Haplotype analysis suggested linkage of the disease to 18q12.1, which harbors the DSG1 gene, encoding desmoglein 1. Mutation analysis eventually led to the identification of a causative recurrent nonsense mutation in this gene. Conclusions: Mutations in DSG1 are not exclusively associated with striated palmoplantar keratoderma. The present study illustrates the efficacy of an integrative diagnostic approach to palmoplantar keratodermas involving clinical assessment, pathologic examination, microsatellite marker screening, and mutational analysis.展开更多
粒形是评价水稻产量和品质性状的重要指标之一,其分子机制研究对水稻(Oryza sativa)遗传改良及品种培育有重要意义。利用EMS诱变粳稻品种TB309获得了一个矮杆小粒的突变体dwarf and short grain(dsg1)。与野生型相比,突变体dsg1株高较...粒形是评价水稻产量和品质性状的重要指标之一,其分子机制研究对水稻(Oryza sativa)遗传改良及品种培育有重要意义。利用EMS诱变粳稻品种TB309获得了一个矮杆小粒的突变体dwarf and short grain(dsg1)。与野生型相比,突变体dsg1株高较野生型显著降低20.35%,其矮化表型由穗长和节间长度缩短所致。突变体的籽粒粒长、粒宽和粒厚分别减少15.53%、10.45%和7.26%。将突变体dsg1与9311进行杂交,获得F2群体进行表型考察和遗传分析,F2代出现表型分离,正常粒长与dsg1突变体的粒长比例符合3∶1,说明该粒长突变基因是由隐性单基因控制。利用图位克隆的方法,将突变基因定位于水稻第4染色体分子标记ID2798与ID2803之间52.28 kb的区间内,并利用Gramene数据库对定位区间进行基因预测,发现该区间存在11个基因,这为该突变基因的克隆和功能分析奠定了基础。展开更多
文摘Background: Mutations in genes coding for 2 desmosomal proteins, desmoglein 1 and desmoplakin, have been shown to cause autosomal dominant keratoderma palmoplantaris striata. Observations: We describe a family affected with a diffuse nonstriated form of palmoplantar keratoderma. Histopathologic examination of skin biopsy specimens disclosed cell- cell disadhesion in the suprabasal layers of the epidermis, as previously described in keratoderma palmoplantaris striata. We therefore genotyped all family members using microsatellite markers encompassing 3 keratoderma palmoplantaris striata- associated loci. Haplotype analysis suggested linkage of the disease to 18q12.1, which harbors the DSG1 gene, encoding desmoglein 1. Mutation analysis eventually led to the identification of a causative recurrent nonsense mutation in this gene. Conclusions: Mutations in DSG1 are not exclusively associated with striated palmoplantar keratoderma. The present study illustrates the efficacy of an integrative diagnostic approach to palmoplantar keratodermas involving clinical assessment, pathologic examination, microsatellite marker screening, and mutational analysis.
文摘粒形是评价水稻产量和品质性状的重要指标之一,其分子机制研究对水稻(Oryza sativa)遗传改良及品种培育有重要意义。利用EMS诱变粳稻品种TB309获得了一个矮杆小粒的突变体dwarf and short grain(dsg1)。与野生型相比,突变体dsg1株高较野生型显著降低20.35%,其矮化表型由穗长和节间长度缩短所致。突变体的籽粒粒长、粒宽和粒厚分别减少15.53%、10.45%和7.26%。将突变体dsg1与9311进行杂交,获得F2群体进行表型考察和遗传分析,F2代出现表型分离,正常粒长与dsg1突变体的粒长比例符合3∶1,说明该粒长突变基因是由隐性单基因控制。利用图位克隆的方法,将突变基因定位于水稻第4染色体分子标记ID2798与ID2803之间52.28 kb的区间内,并利用Gramene数据库对定位区间进行基因预测,发现该区间存在11个基因,这为该突变基因的克隆和功能分析奠定了基础。
