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L Carrel

Publications and source records attributed to L Carrel.

22 records · Page 2Linked to original sources
PubMed1993

Duplicated zinc finger protein genes on the proximal short arm of the human X chromosome: isolation, characterization and X-inactivation studies.

Two highly similar zinc finger genes, ZXDA (Zinc finger, X-linked, Duplicated) and ZXDB, have been isolated and characterized. Both map to the proximal short arm region of the human X chromosome, near locus DXS422 in Xp11.21. Both genes are expressed in several human tissues, revealing a approximately 6.5 kb mRNA by Northern blot hybridization, and both are subject to X-inactivation. A comparison of 1.2 kb of cDNA sequence from a single exon in the open reading frames of the two genes reveals 98.7% identity in nucleotide sequence. The predicted proteins include at least ten tandem C2-H2 zinc finger motifs. When cDNA probes from different parts of the genes are hybridized to a blot of different animal DNAs, two bands are seen in all placental mammals, suggesting that the duplication predates the radiation of placental mammals and is highly conserved. Furthermore, under conditions of lowered stringency, additional bands are seen in several species, suggesting that the two genes reported here may be members of a larger zinc finger gene family.

Amino Acid Sequence↗
PubMed1991

Physical mapping of 60 DNA markers in the p21.1----q21.3 region of the human X chromosome.

Using a panel of human/rodent somatic cell hybrids and human lymphoblast lines segregating 18 different human X-chromosome rearrangements and deletions, we have assigned 60 DNA markers to the physical map of the X chromosome from Xp21.1 to Xq21.3. Data from Southern blot hybridization and polymerase chain reaction (PCR) amplification assign these markers to 15 primary map intervals. This provides a basis for further long-range cloning and mapping of the pericentromeric region of the X chromosome.

Base Sequence↗
PubMedDate not supplied

Molecular determination of X inactivation pattern correlates with phenotype in women with a structurally abnormal X chromosome.

PURPOSE: To correlate the X inactivation pattern, as determined by one or more molecular assays, with phenotype in individuals with structurally abnormal X chromosomes. METHODS: We utilized methylation analysis of androgen receptor (AR) and Fragile X (FMR1) genes and expression studies of an XIST polymorphism to assess X inactivation patterns of 28 females with structurally abnormal X chromosomes. Individuals were placed in one of three categories: (1) completely nonrandom inactivation of one X chromosome, (2) preferential or skewed inactivation of one X chromosome, or (3) random inactivation of either X chromosome. RESULTS: In 19 of 21 cases with complete (>97%) skewing of X inactivation, the phenotype was either normal, consistent with a single gene disorder, or consistent with classical Turner syndrome; two cases with completely nonrandom X inactivation had unexplained mental retardation phenotypes. In contrast, six of seven cases that did not exhibit completely nonrandom X inactivation were phenotypically abnormal. Carriers of two balanced translocations, two duplicated Xs, one deleted X, and one 45,X/46,X,r(X) presented with mental retardation and/or multiple congenital anomalies. CONCLUSION: In patients with random or skewed X inactivation, the abnormal phenotype was hypothesized to be due to functional nullisomy or disomy of X-linked genes. Based on these results, we propose that X inactivation studies should be performed on all women with structurally abnormal X chromosomes. This should aid in the understanding of abnormal phenotypes in liveborn individuals with abnormal X chromosomes and may help to predict phenotypes for prenatally detected cases in the future.

Chromosomes, Human, X↗