ABSTRACT
In this paper, we present a cDNA sequence encoding a full-length precursor form of a new member (ACLD) of the metalloproteinase-disintegrin-like protein family from the venom glands of Agkistrodon contortrix laticinctus (broad-banded copperhead) snake. Comparison of the deduced amino acid sequence of ACLD with those of other members of the metalloproteinase-disintegrin protein family from both mammalian and snake venom origin suggests that some conserved residues may be involved in processing of the disintegrin domain.
Subject(s)
Crotalid Venoms/chemistry , Cysteine/chemistry , DNA, Complementary/analysis , Disintegrins/chemistry , Metalloendopeptidases/chemistry , Amino Acid Sequence , Animals , Base Sequence , Cloning, Molecular , Crotalid Venoms/genetics , Cysteine/genetics , DNA, Complementary/isolation & purification , Disintegrins/genetics , Humans , Metalloendopeptidases/genetics , Molecular Sequence Data , Multigene Family , Protein Precursors/chemistry , Protein Precursors/genetics , Protein Structure, Tertiary , Sequence Homology, Amino AcidABSTRACT
We report on a girl with apparent hypomelanosis of Ito (ITO); cytogenetic studies disclosed the karyotype 46,X,t(X;10)(p11;q11)mat. We present further evidence that at least one of the genetic forms of ITO is located at Xp11; reviewing the clinical characteristics of patients with incontinentia pigmenti type 1 (IP1) and ITO with X-autosome translocations, we suggest that IP1 and ITO represent allelic forms or a contiguous gene syndrome. Thus, different genetic alterations in this region (Xp11) give rise to ITO or IP1 or borderline phenotypes. We also suggest that all patients with ITO, due to Xp11 mutation, have functional or genetic mosaicisms.
Subject(s)
Chromosomes, Human, Pair 10 , Pigmentation Disorders/genetics , Sex Chromosome Aberrations/genetics , Translocation, Genetic , X Chromosome , Abnormalities, Multiple/genetics , Child , Chromosome Mapping , Female , Humans , Intellectual Disability/genetics , Karyotyping , MosaicismABSTRACT
Syndromes with associated overgrowth are poorly understood. Besides their mode of inheritance, nothing is known regarding the basic genetic alterations that lead to their abnormal phenotypic manifestations. The chromosome localization of the genes involved remains unknown for this group of syndromes, with the only exception being the Wiedemann-Beckwith syndrome.
Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 12 , Chromosomes, Human, Pair 15 , Growth Disorders/genetics , Child, Preschool , Chromosome Aberrations , Female , Humans , Infant , Karyotyping , MaleABSTRACT
A 39 year old male with multiple dysmorphic features was found to have an unstable ring chromosome 7. Clinical findings are presented and compared with the other five reported cases of ring chromosome 7. The main characteristics found in patients with this chromosome constitution are prenatal onset growth deficiency, bone anomalies, pigmentary or vascular skin changes, and ocular and genital anomalies.
Subject(s)
Abnormalities, Multiple/diagnosis , Chromosome Aberrations , Chromosomes, Human, Pair 7 , Ring Chromosomes , Abnormalities, Multiple/genetics , Adult , Chromosome Banding , Humans , Intellectual Disability , MaleABSTRACT
We report on a family in which a maternal translocation (7;9) (7qter----7p22::9p13----9pter; 9qter----9p13) resulted in 2 sibs with dup(9p) syndrome, one sib with the same balanced constitution as the mother, and one normal boy.
